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
CRNKL1	51340	broad.mit.edu	37	20	20033198	20033198	+	Missense_Mutation	SNP	C	C	T	rs145079188	byFrequency	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr20:20033198C>T	ENST00000377340.2	-	2	303	c.272G>A	c.(271-273)tGc>tAc	p.C91Y	C20orf26_ENST00000377306.1_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.C79Y|C20orf26_ENST00000245957.5_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	91					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTCCTTGCGGCAGCGCGTGGA	0.667000													4	42					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69640090	69640090	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:69640090C>A	ENST00000374403.3	+	31	3756	c.3674C>A	c.(3673-3675)tCc>tAc	p.S1225Y		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1225	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGGCTGCTCCCCTATCGAA	0.498000													8	28					0.000157383	0.000180556	1	1	0
ATXN3L	92552	broad.mit.edu	37	X	13337312	13337312	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:13337312G>C	ENST00000380622.2	-	1	1206	c.742C>G	c.(742-744)Cgc>Ggc	p.R248G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	248					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.R248S(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATAGTACTGCGGAGATGTTCA	0.448000													95	233					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819207	45819207	+	Silent	SNP	C	C	T	rs142650258		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr21:45819207C>T	ENST00000397928.1	+	14	2536	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	TRPM2_ENST00000300481.9_Silent_p.D677D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.D697D|TRPM2_ENST00000397932.2_Silent_p.D697D	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	697						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.D697D(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						ACCGGAAGGACGAAGAGAGAG	0.627000													14	78					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897108	175897108	+	Silent	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:175897108G>A	ENST00000359240.3	+	5	1102	c.432G>A	c.(430-432)acG>acA	p.T144T	ADAM29_ENST00000514159.1_Silent_p.T144T|ADAM29_ENST00000445694.1_Silent_p.T144T|ADAM29_ENST00000404450.4_Silent_p.T144T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	144					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTTCTACCACGTTTGAACATC	0.383000													9	74					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784690	140784690	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:140784690T>A	ENST00000573521.1	+	1	2171	c.2171T>A	c.(2170-2172)cTg>cAg	p.L724Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCGCATCTGCTGCGGGCT	0.577000													35	104					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134387478	134387478	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr9:134387478C>T	ENST00000423007.1	+	11	1479	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	POMT1_ENST00000341012.7_Missense_Mutation_p.P292L|POMT1_ENST00000402686.3_Missense_Mutation_p.P346L|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000404875.2_Missense_Mutation_p.P229L|POMT1_ENST00000419118.2_Missense_Mutation_p.P194L|POMT1_ENST00000372228.3_Missense_Mutation_p.P368L|POMT1_ENST00000354713.4_Missense_Mutation_p.P316L|POMT1_ENST00000541219.1_Missense_Mutation_p.P124L	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	368	MIR 1.				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)		ACCTGTTACCCCTTCAAAGAT	0.562000													11	10					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46696267	46696267	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr16:46696267T>A	ENST00000299138.7	-	15	2013	c.1955A>T	c.(1954-1956)cAg>cTg	p.Q652L		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	652					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGGGCACACTGAGTCCTCAG	0.493000													7	72					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76643024	76643024	+	Missense_Mutation	SNP	G	G	T	rs143220234		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:76643024G>T	ENST00000261530.7	+	6	1109	c.1043G>T	c.(1042-1044)cGg>cTg	p.R348L	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.R348L	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		AGTGACCCTCGGCAGAAAGAG	0.453000													8	49					3.09899e-07	3.91561e-07	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163256864	163256864	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:163256864C>A	ENST00000332142.5	-	10	2341	c.2242G>T	c.(2242-2244)Ggg>Tgg	p.G748W		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	748					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G748W(1)		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)	TTACTTGCCCCCCGAAAGGCT	0.483000													10	91					0.000442599	0.000495605	1	1	0
IL7R	3575	broad.mit.edu	37	5	35875632	35875632	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:35875632G>T	ENST00000303115.3	+	7	948	c.819G>T	c.(817-819)tgG>tgT	p.W273C	IL7R_ENST00000343305.4_Missense_Mutation_p.G242V|IL7R_ENST00000506850.1_Missense_Mutation_p.G242V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	273					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)			CTATCGTATGGCCCAGTCTCC	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						6	41					0.00116845	0.0012929	1	1	0
NSDHL	50814	broad.mit.edu	37	X	152031163	152031163	+	Silent	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:152031163C>A	ENST00000370274.3	+	5	632	c.438C>A	c.(436-438)gcC>gcA	p.A146A	NSDHL_ENST00000440023.1_Silent_p.A146A	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	146					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCAGCAGTGCCAGTGTCATCT	0.403000													24	70					6.44725e-10	9.34602e-10	1	1	0
LYAR	55646	broad.mit.edu	37	4	4269734	4269734	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:4269734T>C	ENST00000343470.4	-	10	1262	c.1022A>G	c.(1021-1023)tAc>tGc	p.Y341C	LYAR_ENST00000452476.1_Missense_Mutation_p.Y341C	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	341	Lys-rich.					nucleolus	metal ion binding|protein binding	p.Y341C(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCACTGTGTAGTACTGAGC	0.353000													4	26					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549650	23549650	+	Silent	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:23549650C>T	ENST00000262710.1	-	6	1395	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	ACIN1_ENST00000605057.1_Silent_p.Q298Q|ACIN1_ENST00000555053.1_Silent_p.Q356Q|ACIN1_ENST00000457657.1_Silent_p.Q316Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	356	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.Q356Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTTCTCCTGCTGCTGTCTGG	0.453000													12	63					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119665232	119665232	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:119665232G>C	ENST00000379735.5	-	15	2180	c.1909C>G	c.(1909-1911)Ctc>Gtc	p.L637V	SEC24D_ENST00000511481.1_Missense_Mutation_p.L267V|SEC24D_ENST00000280551.6_Missense_Mutation_p.L636V|SEC24D_ENST00000429811.2_Missense_Mutation_p.L192V|SEC24D_ENST00000419654.2_Missense_Mutation_p.L192V|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	636					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGGAAAGAGGAAGAGTGTC	0.488000													7	25					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777778	164777778	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:164777778A>G	ENST00000264382.3	-	10	1120	c.1058T>C	c.(1057-1059)cTt>cCt	p.L353P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	353	Isomaltase.				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)	TTGGAATCCAAGATTCCAATA	0.348000										HNSCC(35;0.089)			44	100					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022587	20022587	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr8:20022587A>G	ENST00000440926.1	-	10	1360	c.890T>C	c.(889-891)cTc>cCc	p.L297P	SLC18A1_ENST00000265808.7_Missense_Mutation_p.L297P|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L297P|SLC18A1_ENST00000276373.5_Missense_Mutation_p.L297P|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L297P|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L297P	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	297					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGGGTCTTTGAGAAGCATAAA	0.502000													17	54					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80971341	80971341	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:80971341C>G	ENST00000555265.1	-	24	3470	c.3095G>C	c.(3094-3096)gGt>gCt	p.G1032A	CEP128_ENST00000281129.3_Missense_Mutation_p.G1032A|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1032						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTGTGGGAACCTTCCAGAAA	0.433000													4	38					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201736	71201736	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:71201736C>T	ENST00000273936.4	+	1	1039	c.980C>T	c.(979-981)gCa>gTa	p.A327V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	327						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTTGTCCCTGCATCAATAGCT	0.408000													14	70					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170052	107170052	+	RNA	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:107170052G>T	ENST00000390633.2	-	0	290																											TGCGTAGTTTGCTGTACCAAA	0.562000													31	126					2.4375e-19	4.25993e-19	1	1	0
HTRA4	203100	broad.mit.edu	37	8	38839176	38839176	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr8:38839176G>C	ENST00000302495.4	+	6	1104	c.1004G>C	c.(1003-1005)gGt>gCt	p.G335A		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	335	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TGCCAGGATGGTGATGTGATT	0.453000													17	44					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89417110	89417110	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:89417110G>T	ENST00000439576.2	+	17	7745	c.7371G>T	c.(7369-7371)agG>agT	p.R2457S	ACAN_ENST00000559004.1_Missense_Mutation_p.R2419S|ACAN_ENST00000561243.1_Missense_Mutation_p.R2457S|ACAN_ENST00000352105.7_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2457					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)			AGCATGCCAGGACCTTCGGGC	0.592000													9	33					0.0477658	0.0493492	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118147029	118147029	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:118147029G>T	ENST00000365713.2	+	8	1879	c.1716G>T	c.(1714-1716)gaG>gaT	p.E572D	LONRF3_ENST00000422289.2_Missense_Mutation_p.E357D|LONRF3_ENST00000304778.7_Missense_Mutation_p.E572D|LONRF3_ENST00000371628.3_Missense_Mutation_p.E613D|LONRF3_ENST00000472173.1_3'UTR			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	613	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCATCCTAGAGATCAGAAATG	0.507000													44	167					6.5261e-18	1.10944e-17	1	1	0
NDN	4692	broad.mit.edu	37	15	23932097	23932097	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:23932097G>T	ENST00000331837.4	-	1	353	c.268C>A	c.(268-270)Ccg>Acg	p.P90T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	90					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCGGTGCCGGGCCCGGCTGG	0.711000									Prader-Willi syndrome				16	28					2.31682e-05	2.72482e-05	1	1	0
CMTM4	146223	broad.mit.edu	37	16	66651243	66651243	+	Silent	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr16:66651243G>A	ENST00000330687.4	-	5	823	c.642C>T	c.(640-642)aaC>aaT	p.N214N		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	214					chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		TTACTGTTACGTTTGTGGAGT	0.363000													14	23					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149505384	149505384	+	RNA	SNP	G	G	T	rs150092603	by1000genomes	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr7:149505384G>T	ENST00000378016.2	+	0	8942							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)			ACCTCGGAGCGCTGCCCAGGT	0.602000													16	57					2.23348e-06	2.76597e-06	1	1	0
GLI1	2735	broad.mit.edu	37	12	57858477	57858477	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:57858477G>A	ENST00000228682.2	+	4	306	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	72					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTTCTCCCCGGAGTGCAGTC	0.587000													6	40					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600417	10600417	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:10600417C>A	ENST00000171111.5	-	4	1985	c.1438G>T	c.(1438-1440)Ggg>Tgg	p.G480W	KEAP1_ENST00000393623.2_Missense_Mutation_p.G480W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G480W(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGTTTGTCCCGTCAAAGCCC	0.582000													11	29					4.68919e-08	6.13202e-08	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123924403	123924403	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr9:123924403G>T	ENST00000373855.1	+	34	5537	c.5277G>T	c.(5275-5277)caG>caT	p.Q1759H	CNTRL_ENST00000238341.5_Missense_Mutation_p.Q1759H|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q1207H|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1759					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGCAGAAGCAGCTCCTTGAGA	0.433000													20	37					2.94398e-08	3.93232e-08	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38592059	38592059	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:38592059C>A	ENST00000413689.1	-	28	5997	c.5804G>T	c.(5803-5805)gGc>gTc	p.G1935V	SCN5A_ENST00000455624.2_Missense_Mutation_p.G1902V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1881V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1934V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1934V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1917V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1917V|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1935V|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1881V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1881V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1935			G -> S (in BRS1).		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)	TTCGGAGAGGCCGCTGCCCGC	0.627000													17	52					4.7546e-09	6.58601e-09	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682271	100682271	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr7:100682271C>T	ENST00000306151.4	+	3	7638	c.7574C>T	c.(7573-7575)aCg>aTg	p.T2525M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2525	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)					GTCAGCACCACGCCAGTGGCC	0.478000													185	491					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799710	159799710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:159799710C>A	ENST00000289707.5	+	2	244	c.95C>A	c.(94-96)tCg>tAg	p.S32*	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	32						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GTCGGGGGCTCGGTGCTGCTG	0.602000													43	165					2.59497e-14	4.11237e-14	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233134126	233134126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:233134126C>A	ENST00000258229.8	-	32	5896	c.5662G>T	c.(5662-5664)Gga>Tga	p.G1888*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.G540*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1888						integral to membrane		p.G1888R(1)		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)				GCCCCTCCTCCGTCCACGTCT	0.617000													11	58					1.08611e-07	1.41043e-07	1	1	0
PCDHB15	56121	broad.mit.edu	37	5	140627174	140627174	+	Silent	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:140627174G>T	ENST00000231173.3	+	1	2028	c.2028G>T	c.(2026-2028)gcG>gcT	p.A676A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		676					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)			TCCCAGAGGCGGCCCCGGCCC	0.662000													36	141					4.11147e-13	6.46089e-13	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158257547	158257547	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:158257547G>C	ENST00000296526.7	+	11	1817	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P	GRIA2_ENST00000264426.9_Missense_Mutation_p.A498P|GRIA2_ENST00000393815.2_Missense_Mutation_p.A451P|GRIA2_ENST00000507898.1_Missense_Mutation_p.A451P|GRIA2_ENST00000449365.1_Missense_Mutation_p.A451P	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	498					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			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)	TATTGCAATTGCTCCATTAAC	0.403000													15	127					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531628	89531628	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:89531628C>A	ENST00000329758.1	-	8	1357	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	TRIM49_ENST00000532501.2_Missense_Mutation_p.W266C	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	343	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CATGGACCTCCCAGTAATATT	0.448000													19	57					1.10923e-09	1.59559e-09	1	1	0
NOP9	161424	broad.mit.edu	37	14	24771457	24771457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:24771457C>T	ENST00000267425.3	+	5	1063	c.970C>T	c.(970-972)Cga>Tga	p.R324*	NOP9_ENST00000396802.3_Nonsense_Mutation_p.R324*	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		GCTATTTCTCCGAGATCAGAC	0.517000													41	178					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	313794	313794	+	Silent	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:313794C>T	ENST00000428720.1	-	4	1028	c.285G>A	c.(283-285)gcG>gcA	p.A95A	SLC6A12_ENST00000359674.4_Silent_p.A95A|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000397296.2_Silent_p.A95A|SLC6A12_ENST00000536824.1_Silent_p.A95A|SLC6A12_ENST00000424061.2_Silent_p.A95A	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	95					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A95A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATTGGCCCAACGCCACCTCCA	0.587000													7	37					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53616745	53616745	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:53616745C>A	ENST00000342160.3	-	35	4680	c.4223G>T	c.(4222-4224)cGg>cTg	p.R1408L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1408L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1408L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1408					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R1271L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCGAGCTTTCCGTTCCTCTTC	0.493000													13	26					2.27111e-07	2.90889e-07	1	1	0
IGLV2-23	28813	broad.mit.edu	37	22	23040631	23040631	+	RNA	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr22:23040631G>A	ENST00000390306.2	+	0	241																											GACTCAGCCTGCCTCCGTGTC	0.587000													60	234					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402466	248402466	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:248402466C>A	ENST00000306687.1	+	1	236	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACTCTACCCAAGATGATC	0.473000													33	147					2.08457e-15	3.41942e-15	1	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951747	130951747	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:130951747G>T	ENST00000312988.7	-	4	768	c.668C>A	c.(667-669)aCg>aAg	p.T223K		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	223					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTTGGTGTACGTGGGACGTTC	0.542000													17	177					3.52763e-06	4.31155e-06	1	1	0
SARS2	54938	broad.mit.edu	37	19	39421116	39421116	+	Silent	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:39421116G>A	ENST00000221431.6	-	1	420	c.261C>T	c.(259-261)ccC>ccT	p.P87P	SARS2_ENST00000600042.1_Silent_p.P87P|SARS2_ENST00000430193.3_Silent_p.P87P|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	87					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCACGATCGCGGGCAGGTCCG	0.672000											OREG0025455|OREG0032101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	11	58					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34322723	34322723	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr18:34322723C>A	ENST00000257209.4	+	19	3380	c.3258C>A	c.(3256-3258)gaC>gaA	p.D1086E	FHOD3_ENST00000591635.1_Missense_Mutation_p.D282E|FHOD3_ENST00000445677.1_Missense_Mutation_p.D1048E|FHOD3_ENST00000359247.4_Missense_Mutation_p.D1069E|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1261E|FHOD3_ENST00000592128.1_Missense_Mutation_p.D65E	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1069	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTCCTGGACCTGAAGGAAG	0.358000													38	224					6.53348e-20	1.1526e-19	1	1	0
ULK1	8408	broad.mit.edu	37	12	132400636	132400636	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:132400636G>T	ENST00000321867.4	+	19	2161	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	604					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GAACCTGCGGGGCTCACCCAA	0.697000													10	32					1.76689e-08	2.39427e-08	1	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305766	39305766	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:39305766C>A	ENST00000343246.4	-	1	288	c.254G>T	c.(253-255)tGc>tTc	p.C85F		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	90	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ggtcctgcagcaggtggtctg	0.667000													8	55					5.18039e-06	6.24989e-06	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1371543	1371543	+	Nonsense_Mutation	SNP	G	G	T	rs144743086	by1000genomes	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:1371543G>T	ENST00000446702.2	+	11	1915	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G358*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G430*			Q9UQ52	CNTN6_HUMAN	contactin 6	430	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G430R(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATTGTTATCGGATGCAAACC	0.358000													5	40					1.23904e-05	1.48526e-05	1	1	0
EID1	23741	broad.mit.edu	37	15	49170594	49170594	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:49170594G>T	ENST00000530028.2	+	1	512	c.221G>T	c.(220-222)aGc>aTc	p.S74I	SHC4_ENST00000332408.4_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.S52I|EID1_ENST00000558295.1_Intron	NM_014335.2	NP_055150.1	Q9Y6B2	EID1_HUMAN	EP300 interacting inhibitor of differentiation 1	74	Interaction with NR0B2 (By similarity).				cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity			liver(1)|prostate(1)	2		all_lung(180;0.00455)		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)		GGGAAACGGAGCCTTGCTAAC	0.682000													9	29					0.00448238	0.00481727	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49771056	49771056	+	Missense_Mutation	SNP	G	G	T	rs143325159	by1000genomes	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr13:49771056G>T	ENST00000492622.2	+	20	2575	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G757V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G701V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	757						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACAGCCCCTGGGCCACCAGAT	0.388000													6	33					2.0095e-06	2.50517e-06	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121653017	121653017	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr7:121653017C>A	ENST00000393386.2	+	12	4328	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1306					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCCCATCCCCCAAAAGGAAGG	0.368000													15	98					3.27435e-08	4.34258e-08	1	1	0
TNN	63923	broad.mit.edu	37	1	175067497	175067497	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:175067497G>C	ENST00000239462.4	+	9	1998	c.1885G>C	c.(1885-1887)Gac>Cac	p.D629H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	629	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.D629Y(1)		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)		CCTGGTGACTGACCGGGTGAC	0.527000													48	153					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78701070	78701070	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:78701070C>A	ENST00000436010.2	-	17	3504	c.2507G>T	c.(2506-2508)gGa>gTa	p.G836V	ROBO1_ENST00000467549.1_Missense_Mutation_p.G839V|ROBO1_ENST00000464233.1_Missense_Mutation_p.G875V|ROBO1_ENST00000495273.1_Missense_Mutation_p.G839V			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	875	Fibronectin type-III 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CACAGGGTTTCCATGGGCATC	0.473000													16	87					2.32078e-09	3.28778e-09	1	1	0
NKX2-2	4821	broad.mit.edu	37	20	21492978	21492978	+	Silent	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr20:21492978G>A	ENST00000377142.4	-	2	761	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	135					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGCCTTGGAGAAAAGCACTC	0.697000													6	16					0	0	1	0	0
CHIC1	53344	broad.mit.edu	37	X	72797281	72797281	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:72797281C>G	ENST00000373504.6	+	2	420	c.335C>G	c.(334-336)tCc>tGc	p.S112C	CHIC1_ENST00000373502.5_Missense_Mutation_p.S112C			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					GAATTTCCCTCCGTTCTAACA	0.343000													12	45					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473635	74473635	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:74473635C>T	ENST00000323940.5	-	17	1930		c.e17+1		STRA6_ENST00000574439.1_Splice_Site|STRA6_ENST00000535552.1_Splice_Site|STRA6_ENST00000423167.2_Splice_Site|STRA6_ENST00000395105.4_Splice_Site|STRA6_ENST00000574278.1_Splice_Site|STRA6_ENST00000449139.2_Splice_Site|STRA6_ENST00000416286.3_Splice_Site|STRA6_ENST00000563965.1_Splice_Site	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6						adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGTGACCTTACCGGGGTCGAG	0.652000													6	13					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395211	186395211	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:186395211G>A	ENST00000232003.4	+	7	1197	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	373	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ccatcctcatgaacatgatac	0.517000													16	28					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920453	4920453	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:4920453G>T	ENST00000433855.1	+	1	2112	c.1246G>T	c.(1246-1248)Gca>Tca	p.A416S	KCNA6_ENST00000280684.3_Missense_Mutation_p.A416S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	416						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						CTTCTGGTGGGCAGTGGTTAC	0.582000										HNSCC(72;0.22)			28	91					1.42536e-11	2.18477e-11	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54527229	54527229	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:54527229G>T	ENST00000545554.1	+	4	3073	c.3071_splice	c.e4-1	p.A1025_splice	UNC13C_ENST00000260323.11_Splice_Site_p.A1025_splice|UNC13C_ENST00000537900.1_Splice_Site_p.A1025_splice			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1025					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)		GTCTTTCAGGGCTGGAGGTGG	0.368000													6	31					0.00116845	0.0012929	1	1	0
ZNF274	10782	broad.mit.edu	37	19	58724155	58724155	+	Silent	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:58724155G>T	ENST00000326804.4	+	9	2064	c.1605G>T	c.(1603-1605)gtG>gtT	p.V535V	ZNF274_ENST00000424679.2_Silent_p.V430V|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.V503V	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	536					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGCCCTATGTGTGTCAAGACT	0.463000													23	80					2.89027e-11	4.32384e-11	1	1	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	39					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209205	3209205	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr20:3209205C>T	ENST00000380059.3	-	18	2571	c.2470G>A	c.(2470-2472)Gat>Aat	p.D824N	SLC4A11_ENST00000539553.1_Missense_Mutation_p.D781N|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.D797N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	797	Membrane (bicarbonate transporter).		V -> M (in CHED2; deafness not assessed).		cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGTTGCCATCGAGGGAGGTG	0.672000													17	32					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68201169	68201169	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:68201169A>T	ENST00000294304.7	+	18	3969	c.3863A>T	c.(3862-3864)gAc>gTc	p.D1288V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1288	LDL-receptor class A 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGCGATGACCAGAGCGAC	0.706000													9	79					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001606	177001606	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:177001606A>C	ENST00000367654.2	-	3	864	c.851T>G	c.(850-852)aTg>aGg	p.M284R	ASTN1_ENST00000367657.3_Missense_Mutation_p.M284R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M284R|ASTN1_ENST00000361833.2_Missense_Mutation_p.M284R			O14525	ASTN1_HUMAN	astrotactin 1	284					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						TGTGAGGTCCATCCCCGACTT	0.597000													16	128					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207686	58207686	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr13:58207686A>G	ENST00000377918.3	+	1	1032	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	336	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCCCACTGCAAAGTCACGGT	0.627000													22	77					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79671407	79671407	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr6:79671407C>A	ENST00000275034.4	-	31	3823	c.3656_splice	c.e31+1	p.R1219_splice	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1219	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGGTTCTAACCTGTAAAACCT	0.403000													3	17					1	1	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120744853	120744853	+	Missense_Mutation	SNP	G	G	T	rs148410637		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:120744853G>T	ENST00000527524.2	+	10	1272	c.985G>T	c.(985-987)Ggc>Tgc	p.G329C	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.G329C			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	329					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCAAGAGATCGGCGTGAAGCC	0.647000													4	30					0.00909568	0.00960956	1	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41778106	41778106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:41778106G>T	ENST00000392006.3	+	3	711	c.538G>T	c.(538-540)Gga>Tga	p.G180*	HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.G180*|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.G80*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.G80*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.G80*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.G91*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.G137*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	180					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAAAACCGGGGACGGGGGTA	0.552000													38	208					2.05212e-20	3.65473e-20	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138223196	138223196	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:138223196G>C	ENST00000302763.7	+	9	1251	c.1161G>C	c.(1159-1161)atG>atC	p.M387I	CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.M387I|CTNNA1_ENST00000355078.5_Missense_Mutation_p.M284I|CTNNA1_ENST00000540387.1_Missense_Mutation_p.M17I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	387	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGCTGTCATGGACCACGTTT	0.333000													32	77					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47281994	47281994	+	Silent	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:47281994G>A	ENST00000542575.2	-	5	1624	c.996C>T	c.(994-996)aaC>aaT	p.N332N	SLC1A5_ENST00000594991.1_Silent_p.N156N|SLC1A5_ENST00000412532.2_Silent_p.N104N|SLC1A5_ENST00000434726.2_Silent_p.N130N	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	332					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	AGCGGTAGGGGTTTTTGCGGG	0.602000													12	59					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164466813	164466813	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:164466813A>T	ENST00000503008.1	-	7	1482	c.506T>A	c.(505-507)gTg>gAg	p.V169E	MARCH1_ENST00000274056.7_Missense_Mutation_p.V169E|MARCH1_ENST00000514618.1_Missense_Mutation_p.V425E|MARCH1_ENST00000339875.5_Missense_Mutation_p.V152E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	169					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGACCAAACCACACAGGTGAT	0.438000													17	61					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558944	140558944	+	Silent	SNP	G	G	C	rs61747391		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:140558944G>C	ENST00000239444.2	+	1	1574	c.1329G>C	c.(1327-1329)tcG>tcC	p.S443S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		443	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTGTCGGACGTCAATG	0.577000													62	910					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811086	23811086	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:23811086A>T	ENST00000314520.3	+	1	633	c.157A>T	c.(157-159)Agg>Tgg	p.R53W	MKRN3_ENST00000568252.1_Missense_Mutation_p.R53W|MKRN3_ENST00000564592.1_Missense_Mutation_p.R53W	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	53						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)		ACATGCGGCAAGGGGCTGGGC	0.687000													16	42					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101755662	101755662	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr13:101755662G>T	ENST00000251127.6	-	26	2999	c.2918C>A	c.(2917-2919)cCt>cAt	p.P973H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	973						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACATTTTGAGGCATCCAACA	0.443000													23	92					5.26018e-13	8.19711e-13	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158627359	158627359	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:158627359G>T	ENST00000368148.3	-	19	2893	c.2713C>A	c.(2713-2715)Ctg>Atg	p.L905M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L905M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	905					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)					AGGTCAGCCAGGTACTGCTGG	0.473000													17	177					4.7546e-09	6.58601e-09	1	1	0
SPP1	6696	broad.mit.edu	37	4	88901272	88901272	+	Silent	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:88901272C>A	ENST00000237623.7	+	4	316	c.168C>A	c.(166-168)gcC>gcA	p.A56A	SPP1_ENST00000360804.4_Intron|SPP1_ENST00000395080.3_Silent_p.A56A|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	56					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATCTCCTAGCCCCACAGGTAT	0.438000													11	62					0.0692343	0.0711364	1	1	0
STK11IP	114790	broad.mit.edu	37	2	220471461	220471461	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:220471461A>T	ENST00000456909.1	+	12	1105	c.1015A>T	c.(1015-1017)Atg>Ttg	p.M339L	STK11IP_ENST00000295641.10_Missense_Mutation_p.M350L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	350					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCAGCCCCATGGGCCCACC	0.627000													22	69					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50714334	50714334	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr22:50714334T>A	ENST00000449103.1	-	36	5536	c.5396A>T	c.(5395-5397)cAg>cTg	p.Q1799L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1799L|AL022328.1_ENST00000595015.1_Missense_Mutation_p.51_51insQ			O15031	PLXB2_HUMAN	plexin B2	1799					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGTACTTCTGCGTGTATTG	0.657000											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31					0	0	1	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617369	183617369	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:183617369C>T	ENST00000308641.4	-	2	819	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	183					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CAAAACAACCCGCGGCCATAA	0.468000													6	88					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416880	89416880	+	RNA	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:89416880G>T	ENST00000490686.1	-	0	330																											AAATCTTCAGGCTGCAGGCTG	0.493000													13	138					0.00185496	0.00204045	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9451835	9451835	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:9451835G>T	ENST00000393883.2	+	5	866	c.218G>T	c.(217-219)gGg>gTg	p.G73V	ZNF559_ENST00000586255.1_Missense_Mutation_p.G101V|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.G137V|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.G73V|ZNF559_ENST00000592896.1_Missense_Mutation_p.G101V|ZNF559_ENST00000538743.1_5'UTR|ZNF559_ENST00000592504.1_Missense_Mutation_p.G73V|ZNF559_ENST00000585352.1_Missense_Mutation_p.G73V|ZNF559_ENST00000603380.1_Missense_Mutation_p.G73V	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTTTTGCAGGGGAAAACATCC	0.333000													7	15					3.09899e-07	3.91561e-07	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37027524	37027524	+	Silent	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:37027524C>A	ENST00000358047.3	+	1	1093	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	347								p.P347P(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAGAGCCTCCCGAGACTGGAG	0.632000													27	118					1.66031e-10	2.4641e-10	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073644	134073644	+	Silent	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:134073644C>T	ENST00000264360.4	+	1	3175	c.2349C>T	c.(2347-2349)agC>agT	p.S783S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	783					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGAAACTCAGCAAGTCAGACA	0.632000													12	33					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526126	176526126	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:176526126C>A	ENST00000367662.3	+	2	1832	c.668C>A	c.(667-669)cCc>cAc	p.P223H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P223H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	223					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAACCTTGGCCCAAGCATTCC	0.562000													22	141					1.50039e-11	2.28108e-11	1	1	0
DHX57	90957	broad.mit.edu	37	2	39088695	39088695	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:39088695C>A	ENST00000295373.6	-	5	983	c.857G>T	c.(856-858)cGc>cTc	p.R286L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	286							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTTGGATTTGCGGAATCTACT	0.348000													8	74					5.18039e-06	6.24989e-06	1	1	0
MAGEA6	4105	broad.mit.edu	37	X	151869584	151869584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:151869584G>T	ENST00000329342.5	+	3	499	c.274G>T	c.(274-276)Gag>Tag	p.E92*		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	92							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCAAGAAGAGGAGGGGCC	0.557000													31	123					7.11191e-15	1.15646e-14	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117704271	117704271	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr10:117704271G>A	ENST00000355044.3	+	29	4247	c.4121G>A	c.(4120-4122)cGt>cAt	p.R1374H	ATRNL1_ENST00000303745.7_Missense_Mutation_p.R167H|ATRNL1_ENST00000423111.2_Missense_Mutation_p.R425H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1374						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)		CTTTCAACACGTCAAGGAACT	0.403000													18	90					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915773	23915773	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr22:23915773C>A	ENST00000330377.2	-	3	440		c.e3-1		IGLL1_ENST00000249053.3_Splice_Site	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1						immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TTGGGCTGACCTGTGTGGACA	0.582000													6	63					0.0215528	0.0223909	1	1	0
GYG1	2992	broad.mit.edu	37	3	148711957	148711957	+	Silent	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:148711957C>T	ENST00000345003.4	+	2	336	c.36C>T	c.(34-36)aaC>aaT	p.N12N	GYG1_ENST00000484197.1_Silent_p.N12N|GYG1_ENST00000296048.6_Silent_p.N12N|GYG1_ENST00000483267.1_Silent_p.N12N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	12					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAACCACAAACGATGCCTACG	0.493000													6	55					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47163294	47163294	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:47163294A>C	ENST00000295454.3	+	4	561	c.269A>C	c.(268-270)cAg>cCg	p.Q90P	GABRB1_ENST00000538619.1_Missense_Mutation_p.Q20P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	90					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATTTCCAGCAGTCTTGGAAA	0.358000													27	80					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118948590	118948590	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:118948590T>G	ENST00000300793.6	+	11	1614	c.1572T>G	c.(1570-1572)aaT>aaG	p.N524K	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	525					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TTCCACAGAATTATCAGGAAG	0.498000													31	153					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23826487	23826487	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:23826487A>T	ENST00000216733.3	-	6	2241	c.1634T>A	c.(1633-1635)cTg>cAg	p.L545Q	EFS_ENST00000429593.2_Missense_Mutation_p.L376Q|EFS_ENST00000351354.3_Missense_Mutation_p.L452Q	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	545					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTGCCCTGCCAGTTCTGTTAC	0.627000													16	65					0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052360	21052360	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:21052360C>G	ENST00000335950.4	-	3	736	c.274G>C	c.(274-276)Ggt>Cgt	p.G92R	RNASE11_ENST00000553849.1_Missense_Mutation_p.G92R|RNASE11_ENST00000398009.2_Missense_Mutation_p.G92R|RNASE11_ENST00000432835.2_Missense_Mutation_p.G92R|RNASE11_ENST00000555841.1_Missense_Mutation_p.G92R|RNASE11_ENST00000398008.2_Missense_Mutation_p.G92R	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	92						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TTGTCATTACCCGAACTGTTT	0.423000													14	161					0	0	1	0	0
MIR412	574433	broad.mit.edu	37	14	101531868	101531868	+	RNA	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:101531868G>C	ENST00000362142.2	+	0	85					NR_030155.1																						GTCCGTATCCGCTGCAGCCTG	0.567000													11	76					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101236	3101236	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:3101236A>T	ENST00000381951.1	+	1	424	c.424A>T	c.(424-426)Atc>Ttc	p.I142F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ACGGTCTTGTATCCTGCTTAT	0.512000													17	124					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141334914	141334914	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:141334914G>T	ENST00000231484.3	-	1	3713	c.2503C>A	c.(2503-2505)Ccg>Acg	p.P835T		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	835					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCGCCGGTGCTCCCTGG	0.637000													20	46					2.4624e-09	3.46217e-09	1	1	0
BEND2	139105	broad.mit.edu	37	X	18195792	18195792	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:18195792C>A	ENST00000380033.4	-	10	1659	c.1527G>T	c.(1525-1527)ttG>ttT	p.L509F	BEND2_ENST00000380030.3_Missense_Mutation_p.L418F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	509	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAATACGAACCAAGTAGCAGG	0.428000													41	216					9.62906e-15	1.55227e-14	1	1	0
VGLL3	389136	broad.mit.edu	37	3	87027892	87027892	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:87027892G>T	ENST00000398399.2	-	2	550	c.187C>A	c.(187-189)Caa>Aaa	p.Q63K	VGLL3_ENST00000383698.3_Missense_Mutation_p.Q63K	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tcctcctcTTGTTTGCTGGGA	0.483000													5	62					0.0215528	0.0223909	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44077843	44077843	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:44077843C>A	ENST00000378832.1	+	11	1350	c.1294C>A	c.(1294-1296)Cag>Aag	p.Q432K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	432							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGGCATCACCCAGCACAAGCT	0.532000													14	25					1.41608e-15	2.34342e-15	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52991388	52991388	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:52991388T>A	ENST00000371544.3	-	2	827	c.565A>T	c.(565-567)Act>Tct	p.T189S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.T189S|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T189S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	189					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCCACAGAAGTAAAGGAGCTT	0.403000													51	94					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70320970	70320970	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:70320970C>T	ENST00000374259.3	+	2	1222	c.890C>T	c.(889-891)cCt>cTt	p.P297L	FOXO4_ENST00000341558.3_Missense_Mutation_p.P242L	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	297					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGGGGTGTCCCTCCCACCCTC	0.572000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	42					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768258	150768258	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr7:150768258G>T	ENST00000485713.1	+	13	2889	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	SLC4A2_ENST00000392826.2_Missense_Mutation_p.V608L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V603L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V617L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V535L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	617					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTCAGAAGTGCAGGGCGA	0.657000													3	16					0.115264	0.117783	1	1	0
FAT3	120114	broad.mit.edu	37	11	92568124	92568124	+	Silent	SNP	T	T	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:92568124T>C	ENST00000298047.6	+	14	9977	c.9960T>C	c.(9958-9960)gcT>gcC	p.A3320A	FAT3_ENST00000409404.2_Silent_p.A3320A|FAT3_ENST00000525166.1_Silent_p.A3170A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3320	Cadherin 30.				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)				GCACCCCAGCTCTCAGCGCTG	0.483000										TCGA Ovarian(4;0.039)			10	10					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105824201	105824201	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr10:105824201C>A	ENST00000353479.5	-	10	1051	c.761G>T	c.(760-762)gGa>gTa	p.G254V	COL17A1_ENST00000369733.3_Missense_Mutation_p.G254V|COL17A1_ENST00000393211.3_Missense_Mutation_p.G254V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	254	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTACCTGATCCCGCAGAGTA	0.597000													24	18					1.10513e-12	1.70793e-12	1	1	0
FAT1	2195	broad.mit.edu	37	4	187628360	187628360	+	Silent	SNP	C	C	A	rs139157199	by1000genomes	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:187628360C>A	ENST00000441802.2	-	2	2831	c.2622G>T	c.(2620-2622)acG>acT	p.T874T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	874	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAACAACACCCGTCACGCTGT	0.517000										HNSCC(5;0.00058)			38	117					1.06647e-15	1.78063e-15	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46627886	46627886	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:46627886G>C	ENST00000470495.1	-	2	2553	c.1106C>G	c.(1105-1107)tCc>tGc	p.S369C	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.S237C|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.S235C|HOXB3_ENST00000489475.1_Missense_Mutation_p.S296C|HOXB3_ENST00000485909.2_Missense_Mutation_p.S237C|HOXB3_ENST00000498678.1_Missense_Mutation_p.S369C|HOXB3_ENST00000476342.1_Missense_Mutation_p.S369C|HOXB3_ENST00000472863.1_Missense_Mutation_p.S296C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.S369C			P14651	HXB3_HUMAN	homeobox B3	369					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCCATAGAGGGAGGGGCCGGC	0.716000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	44					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36336760	36336760	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr6:36336760C>A	ENST00000373738.1	-	5	1433	c.588G>T	c.(586-588)aaG>aaT	p.K196N	ETV7_ENST00000538992.1_Missense_Mutation_p.K100N|ETV7_ENST00000373737.4_Missense_Mutation_p.K174N|ETV7_ENST00000340181.4_Missense_Mutation_p.K251N|ETV7_ENST00000339796.5_Missense_Mutation_p.K251N	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	251					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTCGGAAGATCTTGGCGTCCT	0.532000													22	110					6.44725e-10	9.34602e-10	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40877379	40877379	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr20:40877379G>T	ENST00000373198.3	-	15	2552	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I	PTPRT_ENST00000373184.1_Missense_Mutation_p.L754I|PTPRT_ENST00000373193.3_Missense_Mutation_p.L754I|PTPRT_ENST00000373201.1_Missense_Mutation_p.L754I|PTPRT_ENST00000356100.2_Missense_Mutation_p.L773I|PTPRT_ENST00000373190.1_Missense_Mutation_p.L754I|PTPRT_ENST00000373187.1_Missense_Mutation_p.L754I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	754					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)				AACATGAGGAGGCCAGCGATC	0.557000													10	70					2.17888e-05	2.59522e-05	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135427	32135427	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:32135427G>T	ENST00000312561.4	+	4	1952	c.1538G>T	c.(1537-1539)cGg>cTg	p.R513L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TCTGAAAAGCGGCCAATGCCA	0.393000													17	62					5.01169e-05	5.85742e-05	1	1	0
LY75	4065	broad.mit.edu	37	2	160706611	160706611	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:160706611T>G	ENST00000263636.4	-	23	3057	c.3030A>C	c.(3028-3030)ttA>ttC	p.L1010F	LY75_ENST00000553424.1_Missense_Mutation_p.L1010F|LY75_ENST00000554112.1_Missense_Mutation_p.L1010F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1010F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1010F	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AACCAATCCATAAAGTAGCTT	0.338000													7	50					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046595	17046595	+	RNA	SNP	T	T	C	rs3856293	by1000genomes	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:17046595T>C	ENST00000492551.1	-	0	57					NR_026567.1																						TTCACCACCTTGGGGTGGCCA	0.592000													10	102					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161790885	161790885	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:161790885C>G	ENST00000367942.3	+	9	1188	c.1121C>G	c.(1120-1122)cCa>cGa	p.P374R		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	374					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GTCCCTAGTCCAAAGCGAAGA	0.333000													12	56					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262144	45262144	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:45262144G>A	ENST00000303230.4	-	8	2609	c.2552C>T	c.(2551-2553)cCc>cTc	p.P851L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	851						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGTTCGGGGGGATGGCTCC	0.642000													23	72					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125582702	125582702	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr9:125582702C>T	ENST00000259467.4	-	4	733	c.568G>A	c.(568-570)Gat>Aat	p.D190N		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	190					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GGAATGCCATCCTCATAAATA	0.443000													24	68					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108881948	108881948	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr13:108881948G>T	ENST00000375898.3	+	2	683	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	128						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGGCAACATAGGTCACAGGTT	0.378000													16	65					2.31682e-05	2.72482e-05	1	1	0
RPL6	6128	broad.mit.edu	37	12	112843080	112843080	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:112843080C>A	ENST00000424576.2	-	7	1000	c.815G>T	c.(814-816)cGa>cTa	p.R272L	RPL6_ENST00000202773.9_Missense_Mutation_p.R272L	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	272					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						AAACACAGATCGCAGGTAGCC	0.383000													11	32					4.68919e-08	6.13202e-08	1	1	0
FGD5	152273	broad.mit.edu	37	3	14861278	14861278	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:14861278G>T	ENST00000285046.5	+	1	810	c.700G>T	c.(700-702)Ggt>Tgt	p.G234C	FGD5_ENST00000543601.1_5'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	234	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGGGTTCGGGTCCTGACAG	0.667000													4	14					0.00024832	0.000279734	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85973960	85973960	+	Silent	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr10:85973960C>A	ENST00000372117.3	+	17	2266	c.2163C>A	c.(2161-2163)acC>acA	p.T721T	CDHR1_ENST00000440770.2_Silent_p.T425T|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	721					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCATCTCCACCGCCACCTTCT	0.637000													68	90					5.85407e-19	1.00432e-18	1	1	0
NAV3	89795	broad.mit.edu	37	12	78400264	78400264	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:78400264G>C	ENST00000397909.2	+	8	1119	c.946G>C	c.(946-948)Ggg>Cgg	p.G316R	NAV3_ENST00000228327.6_Missense_Mutation_p.G316R|NAV3_ENST00000536525.2_Missense_Mutation_p.G316R|NAV3_ENST00000266692.7_Missense_Mutation_p.G316R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	316						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTACTGCTGGGCAGCCTCC	0.512000										HNSCC(70;0.22)			24	67					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336349	147336349	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr7:147336349G>T	ENST00000361727.3	+	13	2565	c.2049G>T	c.(2047-2049)gaG>gaT	p.E683D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	683	Fibrinogen C-terminal.				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)			AGTACTGCGAGCAGTATGTCT	0.468000										HNSCC(39;0.1)			9	57					0.00829132	0.00880953	1	1	0
PSD	5662	broad.mit.edu	37	10	104174690	104174690	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr10:104174690C>T	ENST00000020673.5	-	4	1580	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PSD_ENST00000406432.1_Missense_Mutation_p.E352K	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	352					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCGTCGTCCTCATCCTCATTG	0.672000													8	79					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609326	105609326	+	Silent	SNP	C	C	T	rs138779386	byFrequency	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr14:105609326C>T	ENST00000331782.3	-	26	3826	c.3423G>A	c.(3421-3423)ccG>ccA	p.P1141P	JAG2_ENST00000347004.2_Silent_p.P1103P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1141					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTGGCCCCCCGGCCGCTCAA	0.731000													6	28					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17597662	17597662	+	Missense_Mutation	SNP	C	C	A	rs140529865		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:17597662C>A	ENST00000375460.3	+	9	1076	c.1036C>A	c.(1036-1038)Cgc>Agc	p.R346S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	346					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)	CCGCAACGACCGCTGGATCCA	0.617000													12	22					6.40141e-05	7.43518e-05	1	1	0
NOS1AP	9722	broad.mit.edu	37	1	162336934	162336934	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:162336934C>T	ENST00000493151.1	+	2	2680	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	NOS1AP_ENST00000361897.5_Missense_Mutation_p.H400Y|NOS1AP_ENST00000530878.1_Missense_Mutation_p.H395Y|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.H86Y|NOS1AP_ENST00000454693.1_3'UTR	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	400	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)			AGAGGACCTGCATTCGCCGCC	0.667000													44	167					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16004603	16004603	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:16004603C>T	ENST00000268712.3	-	20	2908	c.2651G>A	c.(2650-2652)aGc>aAc	p.S884N	NCOR1_ENST00000395851.1_Missense_Mutation_p.S900N|NCOR1_ENST00000395848.1_Missense_Mutation_p.S791N	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	884					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTCATCAGCGCTGCACGTGGC	0.537000													31	77					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	11					0.150653	0.152282	1	1	0
HRNR	388697	broad.mit.edu	37	1	152193403	152193403	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:152193403G>T	ENST00000368801.2	-	3	777	c.702C>A	c.(700-702)caC>caA	p.H234Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	234					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)			AGCTAGACTTGTGTTGACTAA	0.552000													178	260					7.71273e-65	1.38681e-64	1	1	0
CHST2	9435	broad.mit.edu	37	3	142841203	142841203	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:142841203G>C	ENST00000309575.3	+	2	2929	c.1545G>C	c.(1543-1545)gaG>gaC	p.E515D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	515					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ACAGCCCTGAGGAGGTCAAAG	0.577000													12	22					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136594980	136594980	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr9:136594980C>A	ENST00000371872.4	-	6	1079	c.822G>T	c.(820-822)tgG>tgT	p.W274C	SARDH_ENST00000439388.1_Missense_Mutation_p.W274C|SARDH_ENST00000371867.1_Missense_Mutation_p.W185C|SARDH_ENST00000422262.2_Missense_Mutation_p.W106C|SARDH_ENST00000298628.5_Missense_Mutation_p.W274C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	274					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCACTTGCCCACACTCCTG	0.637000													8	27					0.00307968	0.0033289	1	1	0
FGF12	2257	broad.mit.edu	37	3	192053249	192053249	+	Silent	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr3:192053249G>T	ENST00000454309.2	-	3	1140	c.315C>A	c.(313-315)ctC>ctA	p.L105L	FGF12_ENST00000450716.1_Silent_p.L43L|FGF12_ENST00000264730.3_Silent_p.L43L|FGF12_ENST00000430714.1_Silent_p.L6L|FGF12_ENST00000445105.1_Silent_p.L43L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	105					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTAGATTGAAGAGAGCTGGGG	0.428000													16	51					1.15088e-07	1.48424e-07	1	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135761737	135761737	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:135761737G>C	ENST00000250617.6	-	16	2992	c.1787C>G	c.(1786-1788)cCt>cGt	p.P596R	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P442R|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P469R|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P442R	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	596					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGGAGGTGCAGGTCGTAGACA	0.428000													27	109					0	0	1	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017012	52017012	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:52017012C>T	ENST00000267838.3	-	2	1094	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	LYSMD2_ENST00000560491.1_Missense_Mutation_p.A103T|LYSMD2_ENST00000558126.1_Missense_Mutation_p.A87T|LYSMD2_ENST00000454181.2_Missense_Mutation_p.A103T	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	194					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		AGCTTCTTGGCTGCCTGTGTT	0.428000													15	49					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8013540	8013540	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:8013540T>G	ENST00000380149.1	-	9	1673	c.1643A>C	c.(1642-1644)aAg>aCg	p.K548T	ALOXE3_ENST00000318227.3_Missense_Mutation_p.K524T|ALOXE3_ENST00000448843.2_Missense_Mutation_p.K392T			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	392	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CACCCACGTCTTGGCCAGCAG	0.617000											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945602	151945602	+	Silent	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr7:151945602G>A	ENST00000355193.2	-	14	2135	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	KMT2C_ENST00000262189.6_Silent_p.G639G					lysine (K)-specific methyltransferase 2C																		TTTGATCTTCGCCACAAATAT	0.373000													9	53					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891124	32891124	+	RNA	SNP	C	C	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr16:32891124C>G	ENST00000330048.5	-	0	2925					NR_003083.2																						TCACATCAGTCACCATGGAGA	0.582000													13	83					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411695	51411695	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:51411695A>T	ENST00000319760.6	-	1	753	c.701T>A	c.(700-702)tTg>tAg	p.L234*		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	234					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)				GCAGGTAGACAAGGCTTTACC	0.413000													18	89					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143140	55143140	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:55143140C>A	ENST00000396331.1	+	5	617	c.260C>A	c.(259-261)tCc>tAc	p.S87Y	LILRB1_ENST00000396332.4_Missense_Mutation_p.S87Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.S123Y|LILRB1_ENST00000418536.2_Missense_Mutation_p.S87Y|LILRB1_ENST00000396327.3_Missense_Mutation_p.S87Y|LILRB1_ENST00000396315.1_Missense_Mutation_p.S87Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.S87Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.S87Y|LILRB1_ENST00000396317.1_Missense_Mutation_p.S87Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.S87Y|LILRB1_ENST00000448689.1_Missense_Mutation_p.S87Y	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	87	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCATCCCATCCATCACCTGG	0.552000										HNSCC(37;0.09)			40	145					2.52637e-11	3.80993e-11	1	1	0
SLC39A4	55630	broad.mit.edu	37	8	145638293	145638293	+	Silent	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr8:145638293C>A	ENST00000276833.5	-	10	1893	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Silent_p.V555V	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	555						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GTGCTTGGCGCACGGACAGCC	0.672000													6	22					0.217242	0.21841	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30921781	30921781	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:30921781C>T	ENST00000543491.1	+	2	3181	c.3181C>T	c.(3181-3183)Cgt>Tgt	p.R1061C	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCAGCCATTTCGTAGAGTGAC	0.403000													13	36					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129190043	129190043	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:129190043G>T	ENST00000540052.1	+	12	5112	c.5068G>T	c.(5068-5070)Gtg>Ttg	p.V1690L	BCORL1_ENST00000303743.5_Missense_Mutation_p.V1764L|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1560L|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1690L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1690					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGTGGAGCTGGTGCGGTACGA	0.612000													23	59					1.55795e-14	2.49005e-14	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46776449	46776449	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:46776449T>A	ENST00000529230.1	-	36	4904	c.4858A>T	c.(4858-4860)Aac>Tac	p.N1620Y	CKAP5_ENST00000415402.1_Missense_Mutation_p.N1620Y|CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000312055.5_Intron			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1620					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GAAATCATGTTGCCAATGATA	0.448000													27	101					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382919	22382919	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr15:22382919G>T	ENST00000328795.4	+	1	538	c.447G>T	c.(445-447)tgG>tgT	p.W149C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	149					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)		TGGCTCTGTGGCTTGGGGGTT	0.532000													36	115					2.95478e-19	5.11614e-19	1	1	0
EGR4	1961	broad.mit.edu	37	2	73519483	73519483	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:73519483G>T	ENST00000545030.1	-	2	946	c.872C>A	c.(871-873)gCg>gAg	p.A291E	EGR4_ENST00000436467.2_Missense_Mutation_p.A188E	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	187						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCGGGAGGCGCCCGGAGGCC	0.711000													5	4					8.12818e-05	9.38253e-05	1	1	0
TK1	7083	broad.mit.edu	37	17	76171214	76171214	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:76171214C>T	ENST00000588734.1	-	6	668	c.430G>A	c.(430-432)Gag>Aag	p.E144K	TK1_ENST00000590862.1_Missense_Mutation_p.E144K|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Missense_Mutation_p.E144K|TK1_ENST00000301634.7_Missense_Mutation_p.E144K			P04183	KITH_HUMAN	thymidine kinase 1, soluble	144					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			ACCACGCTCTCGGCCAGCGGC	0.597000													12	26					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556028	29556028	+	Silent	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr6:29556028C>T	ENST00000383640.2	+	1	346	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	103					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CTTCATCTTCCTGTCCCTGGG	0.547000													20	102					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113398949	113398949	+	Silent	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr12:113398949C>A	ENST00000228928.7	+	8	1910	c.1731C>A	c.(1729-1731)ggC>ggA	p.G577G	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	577	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCAGGAGGGCGAGCATAAGG	0.562000													5	15					0.014758	0.0155042	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23411312	23411312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chrX:23411312C>G	ENST00000379361.4	+	3	2537	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	559					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGGGTTTTACATATATGAGT	0.413000													34	110					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5990110	5990110	+	Translation_Start_Site	SNP	C	C	A	rs4689287	by1000genomes	TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:5990110C>A	ENST00000324058.5	-	0	56				C4orf50_ENST00000531445.1_Missense_Mutation_p.Q463H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GAGCTTGCCCCTGAGCCACAG	0.547000													4	31					0.00024832	0.000279734	1	1	0
FAM71A	149647	broad.mit.edu	37	1	212798865	212798865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:212798865C>T	ENST00000294829.3	+	1	1077	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	216										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AAAGGGGGATCAGGACCAGGT	0.547000													37	148					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117027919	117027919	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr10:117027919A>G	ENST00000355044.3	+	13	2224	c.2098A>G	c.(2098-2100)Atg>Gtg	p.M700V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	700	PSI 2.					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)		TAACTGCAGTATGGTTAGTAT	0.383000													29	30					0	0	1	0	0
UGT1A7	54577	broad.mit.edu	37	2	234590605	234590605	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr2:234590605G>T	ENST00000373426.3	+	1	22	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C	UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGGTGGACTGGCCTCCTTCC	0.527000											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	44	90					1.32136e-16	2.22607e-16	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7404339	7404339	+	Silent	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr17:7404339C>T	ENST00000322644.6	+	12	2361	c.1962C>T	c.(1960-1962)caC>caT	p.H654H		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	654					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCTGGTCCACATCTCCTACC	0.532000													9	81					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130425702	130425702	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr6:130425702C>T	ENST00000529410.1	+	21	2347	c.1868C>T	c.(1867-1869)tCt>tTt	p.S623F	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S623F|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S598F|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S623F|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S598F|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S598F			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	623					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATGAAAGCTCTTCTTCCCCT	0.343000													18	66					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900507	133900507	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr8:133900507C>A	ENST00000220616.4	+	10	2495	c.2455C>A	c.(2455-2457)Ctc>Atc	p.L819I	TG_ENST00000377869.1_Missense_Mutation_p.L819I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	819	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAACTTCAGTCTCTTTATTCA	0.522000													17	54					9.16793e-09	1.25139e-08	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5529959	5529959	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr11:5529959G>A	ENST00000311659.4	-	2	977	c.830C>T	c.(829-831)cCc>cTc	p.P277L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	277										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)		AGTGGCAAAGGGATTGCCGCC	0.512000													16	111					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160063082	160063082	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:160063082C>A	ENST00000368086.1	-	4	1160	c.944G>T	c.(943-945)cGg>cTg	p.R315L	IGSF8_ENST00000314485.7_Missense_Mutation_p.R315L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	315	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGCCGATCCGACGTTCACC	0.617000													7	48					2.7689e-08	3.72506e-08	1	1	0
STK10	6793	broad.mit.edu	37	5	171482780	171482780	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:171482780C>A	ENST00000176763.5	-	16	2681	c.2337_splice	c.e16-1	p.E780_splice		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	780	Gln-rich.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTCCCGCTCCTGGAGAGGA	0.612000													10	34					0.00621372	0.0066398	1	1	0
FMO3	2328	broad.mit.edu	37	1	171083346	171083346	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:171083346A>T	ENST00000367755.4	+	7	1138	c.1027A>T	c.(1027-1029)Atc>Ttc	p.I343F	FMO3_ENST00000542847.1_Missense_Mutation_p.I323F|FMO3_ENST00000392085.2_Missense_Mutation_p.I343F|FMO3_ENST00000538429.1_Missense_Mutation_p.I280F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	343					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)					TGAGTCTATCATCAAAAGCAG	0.418000													18	80					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													6	7	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													7	14	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													4	4	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113822775	113822775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr5:113822775delG	ENST00000512097.3	+	7	2301	c.1283delG	c.(1282-1284)agfs	p.R428fs	KCNN2_ENST00000503706.1_Frame_Shift_Del_p.R80fs|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Frame_Shift_Del_p.R428fs			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	428	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AATGTACTCAGGGAAACATGG	0.358													10	24	---	---	---	---					
UGCG	7357	broad.mit.edu	37	9	114687101	114687101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr9:114687101delC	ENST00000374279.3	+	4	838	c.388delC	c.(388-390)cafs	p.P130fs	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	130					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TAATTTAATGCCAGGATATGA	0.244													2	4	---	---	---	---					
MC5R	4161	broad.mit.edu	37	18	13826277	13826277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr18:13826277delG	ENST00000324750.3	+	1	735	c.513delG	c.(511-513)acfs	p.T171fs		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	171					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTTTCTGCACGGGCTGCGGCA	0.567													8	463	---	---	---	---					
HKR1	284459	broad.mit.edu	37	19	37853914	37853919	+	In_Frame_Del	DEL	CACATT	CACATT	-			TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr19:37853914_37853919delCACATT	ENST00000591471.1	+	9	2039_2044	c.398_403delCACATT	c.(397-405)aca>a	p.THS133del	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_In_Frame_Del_p.THS388del|HKR1_ENST00000544914.1_In_Frame_Del_p.THS133del|HKR1_ENST00000541583.2_In_Frame_Del_p.THS345del|HKR1_ENST00000392153.3_In_Frame_Del_p.THS387del|HKR1_ENST00000324411.4_In_Frame_Del_p.THS406del			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	406					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACAAGAGGACACATTCAGGAGAGAA	0.519													17	134	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-MP-A4T7-01A-11D-A24P-08	TCGA-MP-A4T7-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca00df38-78b5-4d6a-b496-caea39b8295d	5bc11e96-fbe0-4f14-8720-1bcc96950133	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													3	4	---	---	---	---					
