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
PRB2	653247	broad.mit.edu	37	12	11546131	11546131	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:11546131G>A	ENST00000389362.4	-	3	916	c.881C>T	c.(880-882)tCc>tTc	p.S294F	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGAACTTCGGGACTTGCTGCC	0.602000													20	732					0	0	0.608945	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169818	27169818	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:27169818T>C	ENST00000288699.6	+	13	1808	c.1650T>C	c.(1648-1650)gcT>gcC	p.A550A	DPYSL5_ENST00000401478.1_Silent_p.A550A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	550					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTTCAGCTCGGATCCTCG	0.607000													5	36					0	0	0.500413	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829737	106829737	+	RNA	SNP	C	C	G	rs3814933		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:106829737C>G	ENST00000390616.2	-	0	256																											TGATTGATTTCCCCAATCCAC	0.557000													63	72					0	0	0.870114	0	0
SHANK2	22941	broad.mit.edu	37	11	70333674	70333674	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70333674G>A	ENST00000338508.4	-	32	2726	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	SHANK2_ENST00000409161.1_Silent_p.C312C|SHANK2_ENST00000423696.2_Silent_p.C529C|SHANK2_ENST00000449833.2_Silent_p.C313C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	529					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGACTTGGGGCAGTTGTAAG	0.622000													29	279					0	0	0.706142	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509268	110509268	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:110509268C>A	ENST00000378402.5	+	64	10552	c.10448C>A	c.(10447-10449)aCa>aAa	p.T3483K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3483					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATTTGGACATGCTGGGAT	0.338000										HNSCC(38;0.096)			56	137					4.25531e-23	5.33046e-23	0.870114	1	0
TSR1	55720	broad.mit.edu	37	17	2238189	2238189	+	Splice_Site	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:2238189T>A	ENST00000301364.4	-	5	1637	c.556_splice	c.e5-1	p.T186_splice		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	186					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGACAGCTAGTGCTGTAAGCG	0.453000													80	98					0	0	0.870114	0	0
NPAP1	23742	broad.mit.edu	37	15	24921415	24921415	+	Missense_Mutation	SNP	C	C	T	rs139493881		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:24921415C>T	ENST00000329468.2	+	1	875	c.401C>T	c.(400-402)gCg>gTg	p.A134V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGTGAGCCGGCGGTCAAGGCC	0.632000													71	16					0	0	0.870114	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174609	11174609	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:11174609A>C	ENST00000390673.2	-	1	610	c.562T>G	c.(562-564)Ttt>Gtt	p.F188V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	188					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTCAGAGTAAAGGGTATGAGG	0.393000													110	153					0	0	0.870114	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169819	27169819	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:27169819C>A	ENST00000288699.6	+	13	1809	c.1651C>A	c.(1651-1653)Cgg>Agg	p.R551R	DPYSL5_ENST00000401478.1_Silent_p.R551R	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	551					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTCAGCTCGGATCCTCGC	0.607000													5	37					3.52763e-06	3.72537e-06	0.520397	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52705124	52705124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:52705124G>T	ENST00000287727.3	+	4	2207	c.2035G>T	c.(2035-2037)Gga>Tga	p.G679*	ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.G679*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.G679*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.G679*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	679					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGTCAGTTTGGAATTTCTGC	0.478000													78	123					1.13027e-35	1.57037e-35	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179590292	179590292	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179590292G>T	ENST00000589042.1	-	71	20863	c.20639C>A	c.(20638-20640)gCc>gAc	p.A6880D	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A5636D|TTN_ENST00000591111.1_Missense_Mutation_p.A6563D|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6563	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAGGCTGGGCGCCTTCTAT	0.428000													68	53					3.31162e-33	4.49502e-33	0.870114	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146741062	146741062	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:146741062G>A	ENST00000361727.3	+	4	982	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	156	F5/8 type C.				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)			TCCGATTATTGCCCGCTATGT	0.428000										HNSCC(39;0.1)			62	37					0	0	0.870114	0	0
NPC1	4864	broad.mit.edu	37	18	21124402	21124402	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:21124402C>A	ENST00000269228.5	-	13	2590	c.2036G>T	c.(2035-2037)gGg>gTg	p.G679V	NPC1_ENST00000412552.2_Missense_Mutation_p.G361V|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	679	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAAGGGCAACCCAATGTAGCT	0.547000													161	53					1.11508e-49	1.64126e-49	0.870114	1	0
ME3	10873	broad.mit.edu	37	11	86161369	86161369	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:86161369C>A	ENST00000543262.1	-	9	1317	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.V331L|ME3_ENST00000393324.3_Missense_Mutation_p.V331L	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	331					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AAAACAAACACGTGATTGGAA	0.502000													21	13					1.96292e-10	2.1205e-10	0.592651	1	0
CDC34	997	broad.mit.edu	37	19	532007	532007	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:532007G>A	ENST00000215574.4	+	1	294	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	26					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCGGTCGAGGGATTCCG	0.672000													3	3					0	0	0.150653	0	0
ALB	213	broad.mit.edu	37	4	74285323	74285323	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:74285323G>T	ENST00000295897.4	+	13	1841	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N	ALB_ENST00000415165.2_Missense_Mutation_p.K392N|ALB_ENST00000503124.1_Missense_Mutation_p.K434N|ALB_ENST00000509063.1_Missense_Mutation_p.K584N|ALB_ENST00000401494.3_Missense_Mutation_p.K469N|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	584	Albumin 3.	Not glycated.	K -> E (in Church bay).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTGCTGCAAGGCTGACGATA	0.443000													63	133					2.26907e-38	3.18075e-38	0.870114	1	0
UBXN6	80700	broad.mit.edu	37	19	4454069	4454069	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:4454069C>A	ENST00000301281.6	-	2	229	c.105G>T	c.(103-105)aaG>aaT	p.K35N	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	35						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTGGTTGGGCTTCTCTTTGT	0.657000													143	34					3.36649e-63	5.11489e-63	0.870114	1	0
MAP2K3	5606	broad.mit.edu	37	17	21204272	21204272	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:21204272C>G	ENST00000342679.4	+	5	615	c.366C>G	c.(364-366)taC>taG	p.Y122*	MAP2K3_ENST00000361818.5_Nonsense_Mutation_p.Y93*|MAP2K3_ENST00000316920.6_Nonsense_Mutation_p.Y93*	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	122	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACTGTTTCTACACTGTCACCT	0.592000													4	183					0	0	0.779181	0	0
PDE3A	5139	broad.mit.edu	37	12	20806882	20806882	+	Splice_Site	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:20806882G>C	ENST00000359062.3	+	15	2967	c.2925_splice	c.e15-1	p.G976_splice	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	976	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATTTCTAGGGTGATGAAGAG	0.428000													45	89					0	0	0.870114	0	0
ATXN1	6310	broad.mit.edu	37	6	16327496	16327496	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:16327496C>T	ENST00000244769.4	-	8	1982	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	ATXN1_ENST00000436367.1_Missense_Mutation_p.G349D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	349					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AACCGACTTGCCGCCTGCCTT	0.677000													4	146					0	0	0.150653	0	0
FBN1	2200	broad.mit.edu	37	15	48752447	48752447	+	Silent	SNP	G	G	A	rs111756438		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:48752447G>A	ENST00000316623.5	-	43	5747	c.5292C>T	c.(5290-5292)ccC>ccT	p.P1764P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1764					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTCACCAACGGGTAAACCGG	0.393000													58	13					0	0	0.870114	0	0
ENPP3	5169	broad.mit.edu	37	6	132004203	132004203	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:132004203G>T	ENST00000414305.1	+	13	1349	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	ENPP3_ENST00000358229.5_Missense_Mutation_p.A341S|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A341S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	341	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGTAATTAAAGCCTTACAGGT	0.378000													69	32					2.05175e-36	2.8591e-36	0.870114	1	0
C1orf173	127254	broad.mit.edu	37	1	75078365	75078365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:75078365C>A	ENST00000326665.5	-	9	1347	c.1129G>T	c.(1129-1131)Gga>Tga	p.G377*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.G180*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	377										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTTTGCCTCCAAGCCTGGAA	0.458000													28	53					3.73148e-12	4.13535e-12	0.717897	1	0
CSN1S1	1446	broad.mit.edu	37	4	70804897	70804897	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:70804897A>G	ENST00000246891.4	+	10	296	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	CSN1S1_ENST00000507763.1_Missense_Mutation_p.M82V|CSN1S1_ENST00000505782.1_Missense_Mutation_p.M75V|CSN1S1_ENST00000507772.1_Missense_Mutation_p.M83V|CSN1S1_ENST00000444405.3_Missense_Mutation_p.M82V	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	83						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTTTTAGAAGATGGAATCCAG	0.328000													50	73					0	0	0.870114	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882171	6882171	+	Silent	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:6882171T>G	ENST00000419673.2	+	10	1066	c.849T>G	c.(847-849)gcT>gcG	p.A283A	ARHGAP28_ENST00000383472.4_Silent_p.A442A|ARHGAP28_ENST00000314319.3_Silent_p.A283A|ARHGAP28_ENST00000400091.2_Silent_p.A442A|ARHGAP28_ENST00000262227.3_Silent_p.A390A|ARHGAP28_ENST00000418986.1_Silent_p.A283A|ARHGAP28_ENST00000531294.1_Silent_p.A278A|ARHGAP28_ENST00000532996.1_Silent_p.A265A	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	265					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGTTTAATGCTGATAAATTTA	0.398000													131	80					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70413204	70413204	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:70413204G>T	ENST00000377844.4	-	6	2077	c.1318C>A	c.(1318-1320)Cca>Aca	p.P440T	KLHL1_ENST00000545028.1_Missense_Mutation_p.P247T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	440					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCTTTCTGGCAATAGATGG	0.353000													69	86					1.25706e-45	1.83305e-45	0.870114	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125192236	125192236	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:125192236G>T	ENST00000431078.1	+	5	1069	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	235	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AACTCCAGAAGGGGAGGCTCG	0.532000													16	36					6.49762e-13	7.30401e-13	0.539581	1	0
GPR116	221395	broad.mit.edu	37	6	46856179	46856179	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:46856179G>T	ENST00000283296.7	-	4	509	c.221C>A	c.(220-222)gCa>gAa	p.A74E	GPR116_ENST00000362015.4_Missense_Mutation_p.A74E|GPR116_ENST00000265417.7_Missense_Mutation_p.A74E|GPR116_ENST00000456426.2_Missense_Mutation_p.A74E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	74					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAGGAAGGATGCATTTTCAAA	0.398000													53	86					1.08114e-33	1.47173e-33	0.870114	1	0
HEG1	57493	broad.mit.edu	37	3	124738111	124738111	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:124738111C>A	ENST00000311127.4	-	5	1650	c.1583G>T	c.(1582-1584)cGt>cTt	p.R528L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	528	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCACTCGAACGTTCTCCACG	0.458000													3	91					0.00909568	0.00927287	0.150653	1	0
GPR158	57512	broad.mit.edu	37	10	25883322	25883322	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:25883322C>A	ENST00000376351.3	+	9	2353	c.1994C>A	c.(1993-1995)cCa>cAa	p.P665Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	665						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTTTGATTCCAAAGGTATTC	0.338000													43	100					1.15505e-17	1.36007e-17	0.847076	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530391	80530391	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:80530391C>A	ENST00000295057.3	-	2	1210	c.554G>T	c.(553-555)cGc>cTc	p.R185L	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R185L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	185						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTTGAGGCTGCGGCAGTCCTG	0.607000										HNSCC(69;0.2)			41	44					3.05275e-18	3.64011e-18	0.864702	1	0
TBX5	6910	broad.mit.edu	37	12	114836427	114836427	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:114836427G>C	ENST00000310346.4	-	5	1127	c.461C>G	c.(460-462)tCc>tGc	p.S154C	TBX5_ENST00000526441.1_Missense_Mutation_p.S154C|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.S154C|TBX5_ENST00000349716.5_Missense_Mutation_p.S104C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	154					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTCTGGAAGGAGACGAGCTG	0.622000													9	19					0	0	0.335167	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882172	6882172	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:6882172G>T	ENST00000419673.2	+	10	1067	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D443Y|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D284Y|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D443Y|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D391Y|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D284Y|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D279Y|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D266Y	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	266					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GTTTAATGCTGATAAATTTAA	0.393000													132	80					1.21017e-56	1.80949e-56	0.870114	1	0
SLC6A15	55117	broad.mit.edu	37	12	85255560	85255560	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:85255560G>A	ENST00000266682.5	-	12	2585	c.2044C>T	c.(2044-2046)Ccg>Tcg	p.P682S	SLC6A15_ENST00000552192.1_Missense_Mutation_p.P575S|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	682					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATCTCGCTCGGTATTTTTCCG	0.438000													90	148					0	0	0.870114	0	0
KIAA1244	57221	broad.mit.edu	37	6	138550985	138550985	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:138550985C>A	ENST00000251691.4	+	5	582	c.416C>A	c.(415-417)gCg>gAg	p.A139E		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	139					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGAAGATCGCGGAGGTGAGT	0.483000													237	40					2.69678e-108	4.19203e-108	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	216373451	216373451	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:216373451A>G	ENST00000366943.2	-	17	3715	c.3329T>C	c.(3328-3330)tTc>tCc	p.F1110S	USH2A_ENST00000366942.3_Missense_Mutation_p.F1110S|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.F1110S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1110	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGTCTAAGAAGTATTGAAT	0.328000										HNSCC(13;0.011)			29	46					0	0	0.717897	0	0
MUC16	94025	broad.mit.edu	37	19	9071035	9071035	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:9071035T>C	ENST00000397910.4	-	3	16614	c.16411A>G	c.(16411-16413)Atc>Gtc	p.I5471V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5473	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGAGAGATATTAGGAGTT	0.507000													140	21					0	0	0.870114	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733824	28733824	+	RNA	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:28733824A>G	ENST00000550043.1	+	0	229																											GTAGAATTGCACTTTAGCAAT	0.567000													40	35					0	0	0.834066	0	0
OR4A15	81328	broad.mit.edu	37	11	55135423	55135423	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55135423C>G	ENST00000314706.3	+	1	64	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTCCGACACCTGAGTCCAAC	0.413000													22	53					0	0	0.639603	0	0
MYO18B	84700	broad.mit.edu	37	22	26423401	26423401	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:26423401G>C	ENST00000335473.7	+	43	7711	c.7461G>C	c.(7459-7461)ggG>ggC	p.G2487G	MYO18B_ENST00000407587.2_Silent_p.G2488G|MYO18B_ENST00000536101.1_Silent_p.G2487G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2487						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCTCTCGGGGATCAAGACCA	0.547000													20	34					0	0	0.575678	0	0
ARMC4	55130	broad.mit.edu	37	10	28284017	28284017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:28284017C>A	ENST00000305242.5	-	2	147	c.55G>T	c.(55-57)Gga>Tga	p.G19*		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	19							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCGAGGATTCCAGTTCCATGT	0.453000													33	48					1.45844e-13	1.6473e-13	0.769981	1	0
CELA2A	63036	broad.mit.edu	37	1	15788127	15788127	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:15788127G>T	ENST00000359621.4	+	3	226	c.201G>T	c.(199-201)tgG>tgT	p.W67C		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	67	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCAACAGCTGGGTCCTGACGG	0.607000													51	100					4.25531e-23	5.33046e-23	0.870114	1	0
C22orf39	128977	broad.mit.edu	37	22	19431847	19431847	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:19431847G>C	ENST00000399562.3	-	3	802	c.259C>G	c.(259-261)Ccg>Gcg	p.P87A	C22orf39_ENST00000542103.1_Intron|C22orf39_ENST00000333059.4_Missense_Mutation_p.P124A|HIRA_ENST00000541063.1_Intron|C22orf39_ENST00000399568.1_Intron|HIRA_ENST00000546308.1_Intron	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN	chromosome 22 open reading frame 39	87												Colorectal(54;0.0993)					CTCTGCCTCGGGGCCCACACC	0.622000													26	44					0	0	0.667858	0	0
AHCYL2	23382	broad.mit.edu	37	7	129045020	129045020	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:129045020A>T	ENST00000325006.3	+	8	1162	c.1108A>T	c.(1108-1110)Aac>Tac	p.N370Y	AHCYL2_ENST00000446212.1_Missense_Mutation_p.N268Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.N289Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.N267Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.N267Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.N369Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	370					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GAAATTTGACAACCTCTACTG	0.423000													109	47					0	0	0.870114	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661301	22661301	+	RNA	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:22661301G>T	ENST00000426066.1	+	0	360					NR_027293.1																						AATGTTCCCTGTGAATTTGTG	0.473000													23	87					4.26978e-12	4.69875e-12	0.654019	1	0
RBL2	5934	broad.mit.edu	37	16	53503839	53503839	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:53503839C>G	ENST00000262133.6	+	15	2124	c.1987C>G	c.(1987-1989)Cca>Gca	p.P663A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	663	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CATAACATCTCCAACCACATT	0.453000													69	58					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110468491	110468491	+	Splice_Site	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:110468491G>C	ENST00000378402.5	+	46	6979	c.6874_splice	c.e46-1	p.G2292_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2292	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGTTCTAGGTGTGCCTGTT	0.373000										HNSCC(38;0.096)			12	43					0	0	0.457914	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254530	18254530	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:18254530G>T	ENST00000377369.2	+	4	935	c.662G>T	c.(661-663)tGt>tTt	p.C221F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.C221F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.C87F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.C221F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	221					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGGGTGTTTGTCTGGGACAA	0.443000													48	51					2.0833e-19	2.50315e-19	0.870114	1	0
HSFY1P1	27437	broad.mit.edu	37	22	17309909	17309909	+	RNA	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:17309909G>A	ENST00000425038.1	+	0	1065					NR_003607.1																						CCTCCTTTGGGGCTGATAGTG	0.453000													4	1					0	0	0.150653	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775753	77775753	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:77775753C>G	ENST00000521891.2	+	11	10251	c.9803C>G	c.(9802-9804)cCt>cGt	p.P3268R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3242R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3223R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3219R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACTTTATCCCTGGGTTTGCT	0.493000										HNSCC(33;0.089)			66	31					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152464762	152464762	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:152464762C>T	ENST00000367255.5	-	138	25716	c.25115G>A	c.(25114-25116)gGc>gAc	p.G8372D	SYNE1_ENST00000265368.4_Missense_Mutation_p.G8372D|SYNE1_ENST00000356820.4_Missense_Mutation_p.G2896D|SYNE1_ENST00000341594.5_Missense_Mutation_p.G7984D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.G550D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G527D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8324D|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8324D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8372					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTACGTAGCCTTTGTAGCT	0.507000										HNSCC(10;0.0054)			93	159					0	0	0.870114	0	0
CTTN	2017	broad.mit.edu	37	11	70281676	70281676	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70281676G>A	ENST00000376561.3	+	18	1775	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000538675.1_Missense_Mutation_p.R256Q|CTTN_ENST00000301843.8_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCCCTGTGGCGGGTAGGCAGG	0.612000													8	61					0	0	0.307466	0	0
BCAR1	9564	broad.mit.edu	37	16	75269450	75269450	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:75269450C>A	ENST00000546196.1	-	5	2912	c.1260G>T	c.(1258-1260)ccG>ccT	p.P420P	BCAR1_ENST00000393420.6_Silent_p.P467P|BCAR1_ENST00000420641.3_Silent_p.P467P|BCAR1_ENST00000418647.3_Silent_p.P495P|BCAR1_ENST00000538440.2_Silent_p.P449P|BCAR1_ENST00000393422.2_Silent_p.P467P|BCAR1_ENST00000542031.2_Silent_p.P447P|BCAR1_ENST00000535626.2_Silent_p.P301P|BCAR1_ENST00000162330.5_Silent_p.P449P|BCAR1_ENST00000566982.1_5'UTR			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	449					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCCCGGCCCGGCCCTGCCA	0.697000													17	3					7.07596e-05	7.34092e-05	0.539581	1	0
MEGF6	1953	broad.mit.edu	37	1	3512006	3512006	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:3512006A>T	ENST00000356575.4	-	3	498	c.272T>A	c.(271-273)gTc>gAc	p.V91D		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	91	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATGTAGTAGACGGTTCTAGA	0.617000													23	49					0	0	0.788014	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950815	127950815	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:127950815G>T	ENST00000335247.7	-	7	987	c.857C>A	c.(856-858)gCc>gAc	p.A286D	CYP27C1_ENST00000409327.1_Missense_Mutation_p.A286D	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	286						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAACTCCTTGGCCCGAGGGAA	0.537000													81	77					1.39294e-53	2.06963e-53	0.870114	1	0
IFIH1	64135	broad.mit.edu	37	2	163133239	163133239	+	Silent	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:163133239C>G	ENST00000263642.2	-	11	2657	c.2262G>C	c.(2260-2262)ctG>ctC	p.L754L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	754	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAGCTCCAATCAGATGGTGGG	0.393000													88	39					0	0	0.870114	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343610	130343610	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:130343610G>T	ENST00000299164.2	+	8	2747	c.2747G>T	c.(2746-2748)cGc>cTc	p.R916L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	916	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTTCAGAGGCGCTCACTCAAG	0.697000													38	12					2.45108e-15	2.82264e-15	0.840704	1	0
RAB3C	115827	broad.mit.edu	37	5	58147124	58147124	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:58147124G>A	ENST00000282878.4	+	5	799	c.630G>A	c.(628-630)caG>caA	p.Q210Q	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	210					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CTGCAAAGCAGAACACGAGAC	0.532000													90	24					0	0	0.870114	0	0
CSMD1	64478	broad.mit.edu	37	8	2832134	2832134	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:2832134C>T	ENST00000520002.1	-	57	9137	c.8582G>A	c.(8581-8583)gGa>gAa	p.G2861E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2802E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2860E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2803E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2803E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2861E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2861	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTGGGTGTCCACACGATAT	0.498000													6	20					0	0	0.248553	0	0
PTF1A	256297	broad.mit.edu	37	10	23482812	23482812	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:23482812C>A	ENST00000376504.3	+	2	1168	c.964C>A	c.(964-966)Cca>Aca	p.P322T		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	322					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGAAAACGAACCACCATTTGA	0.398000													57	113					9.16383e-17	1.07635e-16	0.870114	1	0
OR2T33	391195	broad.mit.edu	37	1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248436759G>T	ENST00000318021.2	-	1	379	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592000													18	60					6.33695e-27	8.24504e-27	0.834066	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72496543	72496543	+	Silent	SNP	C	C	A	rs143495275	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:72496543C>A	ENST00000373208.1	+	10	1602	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	ADAMTS14_ENST00000373207.1_Silent_p.P531P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	531	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGTGTGCACCCGGCAAGGTAC	0.627000													24	47					1.17739e-12	1.31723e-12	0.693898	1	0
OPRK1	4986	broad.mit.edu	37	8	54163409	54163409	+	Silent	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:54163409C>G	ENST00000265572.3	-	2	486	c.189G>C	c.(187-189)acG>acC	p.T63T	OPRK1_ENST00000520287.1_Silent_p.T63T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	63					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGTAGACCGCCGTGATGATGA	0.692000													27	10					0	0	0.693898	0	0
PER1	5187	broad.mit.edu	37	17	8044494	8044494	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8044494T>A	ENST00000317276.4	-	23	4002	c.3765A>T	c.(3763-3765)caA>caT	p.Q1255H	PER1_ENST00000581082.1_Missense_Mutation_p.Q1232H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1255	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGCCCCGCCTTGGGCCTCCT	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					179	268					0	0	0.870114	0	0
BDNF	627	broad.mit.edu	37	11	27679873	27679873	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:27679873T>C	ENST00000525528.1	-	1	1332	c.239A>G	c.(238-240)aAt>aGt	p.N80S	BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.N80S|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.N80S|BDNF_ENST00000438929.1_Missense_Mutation_p.N162S|BDNF_ENST00000525950.1_Missense_Mutation_p.N80S|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.N80S|BDNF_ENST00000395983.3_Missense_Mutation_p.N80S|BDNF_ENST00000314915.6_Missense_Mutation_p.N88S|BDNF_ENST00000418212.1_Missense_Mutation_p.N80S|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.N95S|BDNF_ENST00000395980.2_Missense_Mutation_p.N80S|BDNF_ENST00000532997.1_Missense_Mutation_p.N80S|BDNF_ENST00000530861.1_Missense_Mutation_p.N80S|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000356660.4_Missense_Mutation_p.N80S|BDNF_ENST00000533131.1_Missense_Mutation_p.N80S|BDNF_ENST00000395978.3_Missense_Mutation_p.N80S|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.N80S	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	80						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						GTTTTCTTCATTGGGCCGAAC	0.493000													116	149					0	0	0.870114	0	0
LATS1	9113	broad.mit.edu	37	6	149997417	149997417	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:149997417T>A	ENST00000543571.1	-	7	3409	c.2862A>T	c.(2860-2862)acA>acT	p.T954T	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.T954T	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	954	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTCTAATGGTGTTTGTGCCA	0.353000													36	51					0	0	0.812448	0	0
SSTR3	6753	broad.mit.edu	37	22	37603211	37603211	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:37603211G>A	ENST00000328544.3	-	2	1165	c.632C>T	c.(631-633)gCc>gTc	p.A211V	SSTR3_ENST00000402501.1_Missense_Mutation_p.A211V	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	211					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCCCAGTGCGGCCGTGTAGAT	0.692000													18	32					0	0	0.624587	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732225	8732225	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8732225G>T	ENST00000311434.9	-	11	1211	c.972C>A	c.(970-972)ctC>ctA	p.L324L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	324					platelet activation	cytosol											GGTCCGGCCGGAGGCCCTGCA	0.657000													14	23					1.5842e-08	1.68433e-08	0.435327	1	0
ENOPH1	58478	broad.mit.edu	37	4	83375980	83375980	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:83375980G>A	ENST00000273920.3	+	4	763	c.495G>A	c.(493-495)ggG>ggA	p.G165G	ENOPH1_ENST00000509635.1_Silent_p.G77G	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	165					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TGTTATTCGGGCATTCTACGG	0.418000													5	214					0	0	0.184627	0	0
DGKK	139189	broad.mit.edu	37	X	50121610	50121610	+	RNA	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:50121610C>T	ENST00000376025.2	-	0	3001							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTTGATGATACGGGACATTGC	0.542000													10	5					0	0	0.335167	0	0
RNF20	56254	broad.mit.edu	37	9	104319794	104319794	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:104319794G>A	ENST00000389120.3	+	16	2388	c.2298G>A	c.(2296-2298)gaG>gaA	p.E766E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	766					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCATGTCAGAGCGTATCAAGT	0.453000													77	13					0	0	0.870114	0	0
NDRG2	57447	broad.mit.edu	37	14	21491405	21491405	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:21491405C>T	ENST00000556147.1	-	2	1010	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	NDRG2_ENST00000397847.2_Missense_Mutation_p.A24T|NDRG2_ENST00000397844.2_Missense_Mutation_p.A24T|NDRG2_ENST00000298684.5_Missense_Mutation_p.A24T|NDRG2_ENST00000553503.1_Missense_Mutation_p.A24T|NDRG2_ENST00000298687.5_Missense_Mutation_p.A24T|NDRG2_ENST00000397853.3_Missense_Mutation_p.A24T|NDRG2_ENST00000350792.3_Missense_Mutation_p.A24T|NDRG2_ENST00000397858.1_Missense_Mutation_p.A24T|NDRG2_ENST00000397856.3_Missense_Mutation_p.A24T|NDRG2_ENST00000360463.3_Missense_Mutation_p.A24T|NDRG2_ENST00000403829.3_Missense_Mutation_p.A34T|NDRG2_ENST00000555158.1_Missense_Mutation_p.A24T|NDRG2_ENST00000397851.2_Missense_Mutation_p.A24T|NDRG2_ENST00000397855.3_Missense_Mutation_p.A24T|NDRG2_ENST00000554143.1_Missense_Mutation_p.A24T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	24					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATAACCTTGGCCGCCTCAGGC	0.537000													3	43					0	0	0.150653	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150916	173150916	+	Splice_Site	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:173150916G>T	ENST00000506823.1	+	3	904		c.e3+1		GALNTL6_ENST00000508122.1_Splice_Site	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATGCGCTCAGGTATGAAGCTC	0.448000													16	17					4.7546e-09	5.08959e-09	0.500413	1	0
OR2W5	441932	broad.mit.edu	37	1	247655010	247655010	+	RNA	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:247655010T>C	ENST00000522351.1	+	0	641							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAACCATGCTGGTAGAAGCG	0.592000													98	134					0	0	0.870114	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740375	50740375	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:50740375T>A	ENST00000008391.3	+	8	1385	c.1157T>A	c.(1156-1158)tTt>tAt	p.F386Y		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	386	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACTCATGGCTTTGGGACTCCG	0.403000													43	53					0	0	0.864702	0	0
FBXO21	23014	broad.mit.edu	37	12	117603318	117603318	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:117603318T>C	ENST00000427718.2	-	9	1372	c.1298A>G	c.(1297-1299)tAc>tGc	p.Y433C	FBXO21_ENST00000330622.5_Missense_Mutation_p.Y433C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	433					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CAGGTGGAAGTAAAGCCTGGC	0.512000													94	132					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179659844	179659844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179659844G>T	ENST00000589042.1	-	7	1274	c.1050C>A	c.(1048-1050)taC>taA	p.Y350*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Y350*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y350*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Y350*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y350*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y350*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y350*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	350							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGCCACGTAGCCCTCTT	0.557000													49	102					2.68985e-26	3.49014e-26	0.870114	1	0
OR5M9	390162	broad.mit.edu	37	11	56230837	56230837	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:56230837C>A	ENST00000279791.1	-	1	40	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACAGGTCAGCCCCAGGAGAGT	0.413000													16	26					5.01169e-05	5.21083e-05	0.520397	1	0
MTIF3	219402	broad.mit.edu	37	13	28011271	28011271	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:28011271G>A	ENST00000381116.1	-	6	834	c.600C>T	c.(598-600)gaC>gaT	p.D200D	MTIF3_ENST00000431572.2_Silent_p.D200D|MTIF3_ENST00000381120.3_Silent_p.D200D|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Silent_p.D200D			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	200					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTTCTGACACGTCTACATTTT	0.393000													26	46					0	0	0.681144	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749833	79749833	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:79749833G>C	ENST00000305428.3	+	2	1419	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	448						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCTGGAGAAGCATGAACCAG	0.488000													64	19					0	0	0.870114	0	0
SYT4	6860	broad.mit.edu	37	18	40850486	40850486	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:40850486G>T	ENST00000255224.3	-	4	1466	c.1098C>A	c.(1096-1098)ggC>ggA	p.G366G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G348G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	366	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TATCTTCAAGGCCCTCACAAG	0.433000													54	35					1.67211e-32	2.25018e-32	0.870114	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273312	145273312	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:145273312G>C	ENST00000369340.3	+	4	610	c.166G>C	c.(166-168)Ggg>Cgg	p.G56R	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G56R|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G56R|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G56R			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	56	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ATGTGCCTCAGGGTTTACAGG	0.567000													55	414					0	0	0.870114	0	0
ZNF99	7652	broad.mit.edu	37	19	22941189	22941189	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22941189G>T	ENST00000397104.3	-	5	1248	c.1249C>A	c.(1249-1251)Cct>Act	p.P417T	ZNF99_ENST00000596209.1_Missense_Mutation_p.P508T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGCAAGGTTTCTCTTCC	0.353000													50	65					7.05377e-20	8.54068e-20	0.870114	1	0
COL11A1	1301	broad.mit.edu	37	1	103431074	103431074	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:103431074G>T	ENST00000358392.2	-	38	3238	c.2921C>A	c.(2920-2922)cCt>cAt	p.P974H	COL11A1_ENST00000353414.4_Missense_Mutation_p.P923H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P962H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P846H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	962	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGCCCAGGAGGGCCGGTCTT	0.388000													80	158					3.24273e-39	4.58657e-39	0.870114	1	0
FAM122A	116224	broad.mit.edu	37	9	71395259	71395259	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:71395259G>T	ENST00000394264.3	+	1	296	c.179G>T	c.(178-180)cGg>cTg	p.R60L	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	60										endometrium(1)|lung(2)	3						AGCGCCAGGCGGAACAGCACA	0.697000													77	11					1.36236e-49	1.99898e-49	0.870114	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	52					0	0	0.115264	0	0
ZNF23	7571	broad.mit.edu	37	16	71483245	71483245	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:71483245T>C	ENST00000393539.2	-	6	1496	c.683A>G	c.(682-684)gAg>gGg	p.E228G	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E170G|ZNF23_ENST00000417828.1_Missense_Mutation_p.E228G|ZNF23_ENST00000357254.4_Missense_Mutation_p.E228G|ZNF23_ENST00000428724.2_Missense_Mutation_p.E170G|ZNF23_ENST00000358700.2_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCCCACACTCCACACATTT	0.453000													51	592					0	0	0.870114	0	0
MCM5	4174	broad.mit.edu	37	22	35804507	35804507	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:35804507G>T	ENST00000216122.4	+	6	857	c.703G>T	c.(703-705)Gca>Tca	p.A235S	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.A192S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	235					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GCTGCCTGATGCAGTCCCCCA	0.617000													42	48					9.84934e-19	1.17742e-18	0.853193	1	0
ATRNL1	26033	broad.mit.edu	37	10	117075091	117075091	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:117075091G>T	ENST00000355044.3	+	18	3008	c.2882G>T	c.(2881-2883)tGc>tTc	p.C961F	ATRNL1_ENST00000423111.2_Missense_Mutation_p.C58F|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	961	PSI 5.					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)		TGTGGCTGGTGCAATGATCCT	0.443000													30	70					1.26612e-14	1.44743e-14	0.779181	1	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086539	46086539	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:46086539T>C	ENST00000360770.3	-	1	305	c.265A>G	c.(265-267)Agc>Ggc	p.S89G	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	89	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GGCCTGCAGCTCACAGGCACA	0.632000													31	44					0	0	0.750413	0	0
CSMD2	114784	broad.mit.edu	37	1	34180272	34180272	+	Silent	SNP	G	G	A	rs145807635		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:34180272G>A	ENST00000373381.4	-	21	3497	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACGGTACCCGGGGAAGCAGG	0.662000													96	122					0	0	0.870114	0	0
MSH4	4438	broad.mit.edu	37	1	76365379	76365379	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76365379G>T	ENST00000263187.3	+	19	2711	c.2607G>T	c.(2605-2607)acG>acT	p.T869T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	869					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTCAAATTACGAGACAAATTT	0.279000								Mismatch excision repair (MMR)					49	57					2.43468e-25	3.10768e-25	0.870114	1	0
ANTXR2	118429	broad.mit.edu	37	4	80898813	80898813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:80898813C>T	ENST00000403729.2	-	16	1915	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	ANTXR2_ENST00000404191.1_Missense_Mutation_p.D387N|ANTXR2_ENST00000346652.6_Missense_Mutation_p.D361N|ANTXR2_ENST00000307333.7_Missense_Mutation_p.D464N	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	464						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GAAACCCGGTCATACTGCCGC	0.448000									Juvenile Hyaline Fibromatosis				6	8					0	0	0.278610	0	0
ANKRD45	339416	broad.mit.edu	37	1	173579330	173579330	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:173579330A>G	ENST00000333279.2	-	6	815	c.755T>C	c.(754-756)gTa>gCa	p.V252A	RP3-436N22.3_ENST00000431459.1_RNA	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	268										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ATGGCTTGTTACAGATTTGGC	0.338000													54	113					0	0	0.870114	0	0
CD163	9332	broad.mit.edu	37	12	7636217	7636217	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:7636217C>G	ENST00000359156.4	-	12	3036	c.2834G>C	c.(2833-2835)tGg>tCg	p.W945S	CD163_ENST00000541972.1_Missense_Mutation_p.W933S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.W978S|CD163_ENST00000432237.2_Missense_Mutation_p.W945S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	945	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.W945*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACCTCCATGCCAGATCTCCAC	0.478000													35	41					0	0	0.779181	0	0
LCT	3938	broad.mit.edu	37	2	136564931	136564931	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:136564931C>T	ENST00000264162.2	-	9	3950	c.3940G>A	c.(3940-3942)Gtc>Atc	p.V1314I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1314	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GACCAGGCGACATACCCTCGA	0.527000													49	23					0	0	0.870114	0	0
IQCJ	654502	broad.mit.edu	37	3	158983064	158983064	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:158983064G>A	ENST00000482126.1	+	4	376	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G118R	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GCAGTCACCTGGGGACAAGTT	0.493000													215	150					0	0	0.870114	0	0
ZNF271P	10778	broad.mit.edu	37	18	32886425	32886425	+	RNA	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:32886425G>T	ENST00000399070.3	+	0	819					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						TATCAATGCCGTCATTGTAGT	0.383000													3	58					0.115264	0.116251	0.115264	1	0
ACSM3	6296	broad.mit.edu	37	16	20787221	20787221	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:20787221C>A	ENST00000289416.5	+	3	755	c.280C>A	c.(280-282)Cga>Aga	p.R94R	ACSM3_ENST00000440284.2_Silent_p.R94R|ACSM3_ENST00000450120.2_Silent_p.R49R	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	94					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAAGAGATGCGATGGAGTTT	0.413000													111	144					5.67207e-43	8.19492e-43	0.870114	1	0
ASXL3	80816	broad.mit.edu	37	18	31326256	31326256	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:31326256G>T	ENST00000269197.5	+	12	6444	c.6444G>T	c.(6442-6444)caG>caT	p.Q2148H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCAACAACAGCAGCTCTGTG	0.433000													225	117					1.76002e-104	2.70906e-104	0.870114	1	0
CASP6	839	broad.mit.edu	37	4	110610524	110610524	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:110610524G>C	ENST00000265164.2	-	7	921	c.844C>G	c.(844-846)Cta>Gta	p.L282V	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Missense_Mutation_p.L193V	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	282					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TTTTTAGTTAGCATTGAGGCA	0.413000													85	114					0	0	0.870114	0	0
FYB	2533	broad.mit.edu	37	5	39153579	39153579	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:39153579G>C	ENST00000351578.6	-	3	1453	c.1263C>G	c.(1261-1263)ccC>ccG	p.P421P	FYB_ENST00000505428.1_Silent_p.P421P|FYB_ENST00000515010.1_Silent_p.P421P|FYB_ENST00000512982.1_Silent_p.P421P|FYB_ENST00000540520.1_Silent_p.P431P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	421	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAATGTTTCTGGGAGGTAGGC	0.488000													115	184					0	0	0.870114	0	0
MYCT1	80177	broad.mit.edu	37	6	153043007	153043007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:153043007C>G	ENST00000367245.5	+	2	335	c.327C>G	c.(325-327)agC>agG	p.S109R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	109						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GGAGTTCAAGCAGGAGATCTA	0.517000													84	103					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141777503	141777503	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:141777503T>C	ENST00000389484.3	-	12	2929	c.1958A>G	c.(1957-1959)gAt>gGt	p.D653G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	653					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAACTGGATCCACCACAAT	0.333000										TSP Lung(27;0.18)			49	17					0	0	0.870114	0	0
HSPG2	3339	broad.mit.edu	37	1	22168731	22168731	+	Splice_Site	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:22168731C>A	ENST00000374695.3	-	68	9132		c.e68+1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCATACTCACGGTAGGAAGA	0.652000													25	37					2.39556e-15	2.76547e-15	0.639603	1	0
SSTR1	6751	broad.mit.edu	37	14	38679295	38679295	+	Missense_Mutation	SNP	T	T	A	rs149523434		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:38679295T>A	ENST00000267377.2	+	3	1318	c.701T>A	c.(700-702)cTg>cAg	p.L234Q		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	234					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGCTTCCTGCTGCCCGTGGGG	0.622000													32	66					0	0	0.769981	0	0
OR52N5	390075	broad.mit.edu	37	11	5799430	5799430	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:5799430G>C	ENST00000317093.2	-	1	467	c.435C>G	c.(433-435)ctC>ctG	p.L145L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGGGTTGGTGAGTGTGGTAG	0.507000													61	66					0	0	0.870114	0	0
VPS13B	157680	broad.mit.edu	37	8	100146859	100146859	+	Splice_Site	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:100146859G>T	ENST00000395996.1	+	9	1317		c.e9-1		VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000355155.1_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATTTCTTAGCTCACAGAAA	0.279000													21	44					1.96292e-10	2.1205e-10	0.592651	1	0
OR2M7	391196	broad.mit.edu	37	1	248487331	248487331	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248487331G>T	ENST00000317965.2	-	1	568	c.540C>A	c.(538-540)gaC>gaA	p.D180E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAAGGGAAGTCACAGCAGA	0.438000													97	230					1.00589e-60	1.51366e-60	0.870114	1	0
ATP7B	540	broad.mit.edu	37	13	52520593	52520593	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:52520593G>T	ENST00000242839.4	-	13	3043	c.2887C>A	c.(2887-2889)Cag>Aag	p.Q963K	ATP7B_ENST00000417240.2_Missense_Mutation_p.Q235K|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.Q852K|ATP7B_ENST00000400370.3_Missense_Mutation_p.Q533K|ATP7B_ENST00000448424.2_Missense_Mutation_p.Q885K|ATP7B_ENST00000344297.5_Missense_Mutation_p.Q756K|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	963					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCTCTGTCTGGGAGATGTGC	0.537000									Wilson disease				24	39					3.28513e-13	3.70166e-13	0.667858	1	0
GLYR1	84656	broad.mit.edu	37	16	4855258	4855258	+	Silent	SNP	C	C	A	rs138196315	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:4855258C>A	ENST00000321919.9	-	16	1717	c.1641G>T	c.(1639-1641)gtG>gtT	p.V547V	GLYR1_ENST00000381983.3_Silent_p.V530V|GLYR1_ENST00000591451.1_Silent_p.V541V|GLYR1_ENST00000436648.5_Silent_p.V466V	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	547					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGCTCGGTACACGGCGGACA	0.592000													11	26					6.72482e-11	7.29814e-11	0.479597	1	0
CCNE1	898	broad.mit.edu	37	19	30312979	30312979	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:30312979A>G	ENST00000262643.3	+	9	1061	c.782A>G	c.(781-783)gAc>gGc	p.D261G	CCNE1_ENST00000444983.2_Missense_Mutation_p.D246G|CCNE1_ENST00000357943.5_Missense_Mutation_p.D218G	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	261					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TATCTAAATGACTTACATGAA	0.473000			A		serous ovarian								99	120					0	0	0.870114	0	0
PRUNE	58497	broad.mit.edu	37	1	151001309	151001309	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:151001309C>T	ENST00000271620.3	+	7	978	c.822C>T	c.(820-822)tgC>tgT	p.C274C	PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_Silent_p.C92C|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368934.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	274						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTTTCTGCCAGGCTCACA	0.483000													4	167					0	0	0.150653	0	0
MORC1	27136	broad.mit.edu	37	3	108813861	108813861	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108813861C>A	ENST00000232603.5	-	7	560	c.478G>T	c.(478-480)Gat>Tat	p.D160Y	MORC1_ENST00000483760.1_Missense_Mutation_p.D160Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	160					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTGGGGATCATCTGTGACA	0.313000													24	89					7.92952e-12	8.68559e-12	0.667858	1	0
NLRP14	338323	broad.mit.edu	37	11	7079072	7079072	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:7079072G>C	ENST00000299481.4	+	7	2802	c.2456G>C	c.(2455-2457)aGa>aCa	p.R819T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	819					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCTAGAGAGACTGTCGTGA	0.408000													46	102					0	0	0.870114	0	0
BARHL1	56751	broad.mit.edu	37	9	135464656	135464656	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:135464656T>A	ENST00000263610.2	+	3	1344	c.731T>A	c.(730-732)cTg>cAg	p.L244Q	BARHL1_ENST00000542090.1_Missense_Mutation_p.L244Q	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	244						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TTGGAGCTGCTGGCGGAGGCA	0.632000													178	22					0	0	0.870114	0	0
PCDH10	57575	broad.mit.edu	37	4	134076163	134076163	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:134076163C>A	ENST00000264360.4	+	3	3608	c.2782C>A	c.(2782-2784)Cgt>Agt	p.R928S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	928					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R928S(1)		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)		TGCCACCAACCGTGCCCAGTC	0.423000													28	45					5.45727e-16	6.3466e-16	0.729181	1	0
NAV3	89795	broad.mit.edu	37	12	78400963	78400963	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:78400963A>G	ENST00000397909.2	+	8	1818	c.1645A>G	c.(1645-1647)Aaa>Gaa	p.K549E	NAV3_ENST00000536525.2_Missense_Mutation_p.K549E|NAV3_ENST00000266692.7_Missense_Mutation_p.K549E|NAV3_ENST00000228327.6_Missense_Mutation_p.K549E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						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						CACAGCAAGCAAAGAGTCTGA	0.463000										HNSCC(70;0.22)			43	61					0	0	0.827153	0	0
LAMA1	284217	broad.mit.edu	37	18	7015791	7015791	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:7015791T>C	ENST00000389658.3	-	22	3149	c.3056A>G	c.(3055-3057)cAc>cGc	p.H1019R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1019	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTGTGTGTGAGGGGGGCA	0.542000													70	259					0	0	0.870114	0	0
LINC00477	144360	broad.mit.edu	37	12	24736561	24736561	+	RNA	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:24736561G>C	ENST00000483544.1	-	0	541					NR_029451.2																						ACTTAAGAAGGAAAAAAAGGG	0.557000													33	67					0	0	0.788014	0	0
IMPG2	50939	broad.mit.edu	37	3	100962535	100962535	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:100962535C>A	ENST00000193391.7	-	13	2827	c.2640G>T	c.(2638-2640)gtG>gtT	p.V880V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	880					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGGCCAAGCCACACTAACCA	0.458000													69	41					5.45122e-27	7.11226e-27	0.870114	1	0
PKHD1	5314	broad.mit.edu	37	6	51947243	51947243	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:51947243G>A	ENST00000371117.3	-	4	503	c.228C>T	c.(226-228)ccC>ccT	p.P76P	PKHD1_ENST00000340994.4_Silent_p.P76P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	76	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGACGTCACAGGGAACACTCC	0.502000													94	139					0	0	0.870114	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682013	69682013	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:69682013G>T	ENST00000265403.7	+	1	303	c.276G>T	c.(274-276)ttG>ttT	p.L92F	UGT2B10_ENST00000458688.2_Missense_Mutation_p.L92F	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	92					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCATGCAATTGGTTAAGAGAT	0.313000													41	60					2.26627e-22	2.80899e-22	0.834066	1	0
OR5D16	390144	broad.mit.edu	37	11	55606809	55606809	+	Silent	SNP	T	T	A	rs147515254	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55606809T>A	ENST00000378396.1	+	1	582	c.582T>A	c.(580-582)tcT>tcA	p.S194S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCCTGACTCTTATCTCAGCC	0.393000													68	117					0	0	0.870114	0	0
EIF6	3692	broad.mit.edu	37	20	33867551	33867551	+	Splice_Site	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:33867551C>T	ENST00000374450.3	-	6	811		c.e6-1		EIF6_ENST00000374443.3_Splice_Site|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Splice_Site	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6						mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGTCCCCGCCTGCCAAGGGA	0.587000													36	50					0	0	0.779181	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844770	93844770	+	Splice_Site	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:93844770C>A	ENST00000315765.9	+	19	3284	c.3277_splice	c.e19+1	p.N1092_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1092	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCATCTAACGGTAATGATA	0.448000													10	5					3.86212e-05	4.02447e-05	0.361761	1	0
C15orf32	145858	broad.mit.edu	37	15	93015432	93015432	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:93015432C>A	ENST00000333334.2	+	1	549	c.54C>A	c.(52-54)gaC>gaA	p.D18E	C15orf32_ENST00000556865.1_Missense_Mutation_p.D18E	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	18										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ACCCGGCTGACCCCCAGAGTG	0.527000													74	16					9.21137e-24	1.16315e-23	0.870114	1	0
SERTM1	400120	broad.mit.edu	37	13	37269514	37269514	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:37269514C>A	ENST00000315190.3	+	2	745	c.299C>A	c.(298-300)tCc>tAc	p.S100Y		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	100						integral to membrane											TCTCAGAGGTCCACTTTTTCA	0.473000													32	86					7.11191e-15	8.15014e-15	0.769981	1	0
PCNT	5116	broad.mit.edu	37	21	47821491	47821491	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:47821491G>A	ENST00000359568.5	+	26	4925	c.4818G>A	c.(4816-4818)caG>caA	p.Q1606Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1606					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAACAGCAGATGAGTAGCT	0.453000													51	93					0	0	0.870114	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341657	55341657	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55341657C>A	ENST00000391728.4	+	9	1295	c.1262C>A	c.(1261-1263)cCc>cAc	p.P421H	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P326H|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P421H|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P404H|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P404H	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCAAGACACCCCCTACAGAT	0.512000													196	35					2.91701e-67	4.44631e-67	0.870114	1	0
ZNF208	7757	broad.mit.edu	37	19	22155761	22155761	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22155761G>T	ENST00000397126.4	-	4	2223	c.2075C>A	c.(2074-2076)cCc>cAc	p.P692H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTTCTCTCC	0.383000													47	99					4.33383e-22	5.35757e-22	0.870114	1	0
YWHAZ	7534	broad.mit.edu	37	8	101936241	101936241	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:101936241C>A	ENST00000395957.2	-	6	961	c.620G>T	c.(619-621)aGt>aTt	p.S207I	YWHAZ_ENST00000395948.2_Missense_Mutation_p.S130I|YWHAZ_ENST00000395958.2_Missense_Mutation_p.S207I|YWHAZ_ENST00000419477.2_Missense_Mutation_p.S207I|YWHAZ_ENST00000395951.3_Missense_Mutation_p.S207I|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S87I|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S207I|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S207I|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S132I|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S207I|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S87I|YWHAZ_ENST00000457309.1_Missense_Mutation_p.S207I			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	207					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TGACTCTTCACTTAATGTATC	0.333000													92	114					8.92586e-32	1.19434e-31	0.870114	1	0
NLRP4	147945	broad.mit.edu	37	19	56390176	56390176	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56390176T>A	ENST00000301295.6	+	9	3135	c.2713T>A	c.(2713-2715)Tta>Ata	p.L905I	NLRP4_ENST00000346986.5_Missense_Mutation_p.L849I|NLRP4_ENST00000587891.1_Missense_Mutation_p.L830I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	905							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAATGTGGGTTAACGAGCAC	0.532000													17	20					0	0	0.539581	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127684	226127684	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:226127684A>T	ENST00000366820.5	-	2	617	c.269T>A	c.(268-270)cTg>cAg	p.L90Q	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.L90Q	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	90					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CTCCGACGCCAGGAACCTGCC	0.697000													9	18					0	0	0.411799	0	0
OR5D18	219438	broad.mit.edu	37	11	55587238	55587238	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55587238G>T	ENST00000333976.4	+	1	153	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G45W(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGGGAATATTGGGTTGATTGT	0.458000													123	144					1.05862e-61	1.5981e-61	0.870114	1	0
TIE1	7075	broad.mit.edu	37	1	43774729	43774729	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:43774729G>C	ENST00000372476.3	+	8	1194	c.1115G>C	c.(1114-1116)tGt>tCt	p.C372S	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Missense_Mutation_p.C17S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	372	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGATCAACTGTGCAGCTGCA	0.607000													37	75					0	0	0.812448	0	0
LILRA1	11024	broad.mit.edu	37	19	55106644	55106644	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55106644C>A	ENST00000453777.1	+	5	608	c.438C>A	c.(436-438)gtC>gtA	p.V146V	LILRA1_ENST00000251372.3_Silent_p.V146V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	146	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCATTGTGTCTCACAGGTGG	0.567000													79	110					1.39921e-30	1.85642e-30	0.870114	1	0
ZNF264	9422	broad.mit.edu	37	19	57723577	57723577	+	Missense_Mutation	SNP	A	A	C	rs139216855		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:57723577A>C	ENST00000263095.6	+	4	1526	c.1112A>C	c.(1111-1113)tAt>tCt	p.Y371S	ZNF264_ENST00000536056.1_Missense_Mutation_p.Y371S	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGAAGCCCTATGAGTGCAGT	0.517000													52	138					0	0	0.870114	0	0
OR4N4	283694	broad.mit.edu	37	15	22382712	22382712	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22382712G>A	ENST00000328795.4	+	1	331	c.240G>A	c.(238-240)agG>agA	p.R80R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	80					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)		TGGCTCCCAGGATGTTGGTGG	0.512000													36	874					0	0	0.827153	0	0
NPY5R	4889	broad.mit.edu	37	4	164272139	164272139	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:164272139A>G	ENST00000515560.1	+	4	2236	c.714A>G	c.(712-714)atA>atG	p.I238M	NPY5R_ENST00000506953.1_Missense_Mutation_p.I238M|NPY5R_ENST00000338566.3_Missense_Mutation_p.I238M			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	238					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAGAAGTATAAGCTGTGGAT	0.368000													58	90					0	0	0.870114	0	0
PEX19	5824	broad.mit.edu	37	1	160249948	160249948	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:160249948A>G	ENST00000368072.5	-	6	704	c.683T>C	c.(682-684)aTa>aCa	p.I228T	DCAF8_ENST00000556710.1_Missense_Mutation_p.I81T|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.I138T	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTCACATATTTTGCACAT	0.468000													137	208					0	0	0.870114	0	0
SI	6476	broad.mit.edu	37	3	164739083	164739083	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:164739083T>C	ENST00000264382.3	-	27	3250	c.3188A>G	c.(3187-3189)tAt>tGt	p.Y1063C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1063	Sucrase.				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)	TTCCACATCATAAAGTCTGTC	0.353000										HNSCC(35;0.089)			142	330					0	0	0.870114	0	0
GRM7	2917	broad.mit.edu	37	3	7494344	7494344	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:7494344C>A	ENST00000486284.1	+	6	1499	c.1225C>A	c.(1225-1227)Cag>Aag	p.Q409K	GRM7_ENST00000403881.1_Missense_Mutation_p.Q409K|GRM7_ENST00000389336.4_Missense_Mutation_p.Q409K|GRM7_ENST00000402647.2_Missense_Mutation_p.Q409K|GRM7_ENST00000357716.4_Missense_Mutation_p.Q409K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	409					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGTAAAGTCCAGTTCGTGAT	0.483000													27	18					3.73148e-12	4.13535e-12	0.717897	1	0
GPRIN3	285513	broad.mit.edu	37	4	90170272	90170272	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:90170272G>T	ENST00000333209.3	-	2	1508	c.990C>A	c.(988-990)agC>agA	p.S330R		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	330										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGACGGATCTGCTCTCGACAC	0.537000													53	100					1.4374e-25	1.85484e-25	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179454011	179454011	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179454011C>A	ENST00000589042.1	-	304	62665	c.62441G>T	c.(62440-62442)aGa>aTa	p.R20814I	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11874I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18246I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19173I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11941I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11749I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19173	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11749T(1)|p.R18244T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGTGATCTTGTTAAGTC	0.453000													93	226					1.42366e-38	2.00162e-38	0.870114	1	0
XCR1	2829	broad.mit.edu	37	3	46062615	46062615	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:46062615G>A	ENST00000309285.3	-	2	1181	c.825C>T	c.(823-825)ctC>ctT	p.L275L	XCR1_ENST00000542109.1_Silent_p.L275L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	275					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGAGAAGGCGAGGTTGCGGC	0.567000													23	7					0	0	0.654019	0	0
EP300	2033	broad.mit.edu	37	22	41574850	41574850	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:41574850A>C	ENST00000263253.7	+	31	8354	c.7135A>C	c.(7135-7137)Aat>Cat	p.N2379H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2379					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCTTGCTAGCAATCCAGGCAT	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				43	51					0	0	0.827153	0	0
SYPL2	284612	broad.mit.edu	37	1	110022063	110022063	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:110022063C>A	ENST00000369872.3	+	6	928	c.712C>A	c.(712-714)Ccg>Acg	p.P238T	SYPL2_ENST00000401021.3_Missense_Mutation_p.P174T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	238	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAAGGAGACCCCGTGGCATGG	0.577000													37	85					9.45814e-24	1.19112e-23	0.804634	1	0
FBXL6	26233	broad.mit.edu	37	8	145579649	145579649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:145579649C>T	ENST00000331890.5	-	8	1515	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.R478Q	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	484					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGTGTGACCCGGGTGCCCCT	0.632000													10	255					0	0	0.361761	0	0
PDZD8	118987	broad.mit.edu	37	10	119044034	119044034	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:119044034T>C	ENST00000334464.5	-	5	2449	c.2210A>G	c.(2209-2211)gAa>gGa	p.E737G	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	737					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGCCACATCTTCAAGTTTTAA	0.448000													55	54					0	0	0.870114	0	0
CDC45	8318	broad.mit.edu	37	22	19471512	19471512	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:19471512G>A	ENST00000407835.1	+	6	726	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	157					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTGAGAAGCGCACACGGTTA	0.532000													5	113					0	0	0.184627	0	0
NTSR2	23620	broad.mit.edu	37	2	11802111	11802111	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:11802111G>A	ENST00000306928.5	-	2	914	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	294					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGGACGCTGCGCTGGAGGCTG	0.582000													82	123					0	0	0.870114	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409494	56409494	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:56409494A>T	ENST00000544374.1	-	1	453	c.425T>A	c.(424-426)cTc>cAc	p.L142H	OR5AP2_ENST00000302981.1_Missense_Mutation_p.L141H			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCCAGACACGAGAACTGGGTA	0.483000													25	54					0	0	0.667858	0	0
MYC	4609	broad.mit.edu	37	8	128753024	128753024	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:128753024G>T	ENST00000377970.2	+	3	1695	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	MYC_ENST00000524013.1_Missense_Mutation_p.Q394H	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	380	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q380Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		TGCGTGACCAGATCCCGGAGT	0.517000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								94	314					2.76703e-59	4.15055e-59	0.870114	1	0
LAMB4	22798	broad.mit.edu	37	7	107669526	107669526	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:107669526A>G	ENST00000388781.3	-	33	5191	c.5108T>C	c.(5107-5109)tTg>tCg	p.L1703S	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1703S|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1703S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1703	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCCAGCCAATTTTTCTGC	0.363000													48	21					0	0	0.870114	0	0
NPHS2	7827	broad.mit.edu	37	1	179533895	179533895	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:179533895C>A	ENST00000367615.4	-	2	376	c.308G>T	c.(307-309)tGg>tTg	p.W103L	NPHS2_ENST00000367616.4_Missense_Mutation_p.W103L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	103					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GACAAGAAGCCACTCACAGGC	0.403000													28	40					8.24728e-16	9.56766e-16	0.681144	1	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976446	89976446	+	RNA	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:89976446A>T	ENST00000474213.1	+	0	352																											GTGGAGGCTGAGGATGTTGGG	0.537000													58	94					0	0	0.870114	0	0
GALNT6	11226	broad.mit.edu	37	12	51753071	51753071	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:51753071C>A	ENST00000543196.2	-	7	1418	c.1213G>T	c.(1213-1215)Gta>Tta	p.V405L	GALNT6_ENST00000356317.3_Missense_Mutation_p.V405L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	405	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATGGCCTACGACAGAGCAG	0.592000													121	172					2.55716e-62	3.87273e-62	0.870114	1	0
LILRA2	11027	broad.mit.edu	37	19	55087544	55087544	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55087544T>A	ENST00000251377.3	+	7	1356	c.1223T>A	c.(1222-1224)cTc>cAc	p.L408H	LILRA2_ENST00000391737.1_Missense_Mutation_p.L396H|LILRA2_ENST00000391738.3_Missense_Mutation_p.L408H|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L408H					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGCTGTCTCTCCCCAGTGAC	0.622000													79	114					0	0	0.870114	0	0
SELL	6402	broad.mit.edu	37	1	169672410	169672410	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:169672410C>G	ENST00000236147.4	-	6	1137	c.977G>C	c.(976-978)aGt>aCt	p.S326T	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	313					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ACATATTGGACTAGGATTTGA	0.383000													12	20					0	0	0.411799	0	0
GRM7	2917	broad.mit.edu	37	3	7494377	7494377	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:7494377C>G	ENST00000486284.1	+	6	1532	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D	GRM7_ENST00000403881.1_Missense_Mutation_p.H420D|GRM7_ENST00000389336.4_Missense_Mutation_p.H420D|GRM7_ENST00000402647.2_Missense_Mutation_p.H420D|GRM7_ENST00000357716.4_Missense_Mutation_p.H420D|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	420					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGCTATGGCTCACGCCCTTCA	0.488000													18	12					0	0	0.575678	0	0
JPH1	56704	broad.mit.edu	37	8	75227756	75227756	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:75227756C>G	ENST00000342232.4	-	2	519	c.479G>C	c.(478-480)cGt>cCt	p.R160P		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	160					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAGCGAGGTACGCAGCGGTGA	0.731000													16	7					0	0	0.539581	0	0
GABRG2	2566	broad.mit.edu	37	5	161524815	161524815	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:161524815A>T	ENST00000356592.3	+	4	959	c.499A>T	c.(499-501)Aac>Tac	p.N167Y	GABRG2_ENST00000393933.4_Missense_Mutation_p.N72Y|GABRG2_ENST00000414552.2_Missense_Mutation_p.N167Y|GABRG2_ENST00000361925.4_Missense_Mutation_p.N167Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	167					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CACCACCCCCAACAGGATGCT	0.423000													136	17					0	0	0.870114	0	0
DPP10	57628	broad.mit.edu	37	2	116510867	116510867	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:116510867T>C	ENST00000410059.1	+	11	1548	c.1068T>C	c.(1066-1068)tgT>tgC	p.C356C	DPP10_ENST00000393147.2_Silent_p.C360C|DPP10_ENST00000310323.8_Silent_p.C349C|DPP10_ENST00000409163.1_Silent_p.C306C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	356					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGTGCTTGTAGTAAAGTGA	0.368000													29	66					0	0	0.760397	0	0
FAM161A	84140	broad.mit.edu	37	2	62081004	62081004	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:62081004G>T	ENST00000404929.1	-	1	184	c.173C>A	c.(172-174)gCt>gAt	p.A58D	FAM161A_ENST00000405894.3_Missense_Mutation_p.A58D	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	58					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATGCCCCAGCGGGCTGAGC	0.682000													22	34					7.3207e-31	9.76784e-31	0.667858	1	0
FKBP15	23307	broad.mit.edu	37	9	115983487	115983487	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:115983487G>A	ENST00000238256.3	-	1	154	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	13					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCGGCGAGAGGAAATCGGTG	0.627000													25	5					0	0	0.729181	0	0
PGBD5	79605	broad.mit.edu	37	1	230472906	230472906	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:230472906G>T	ENST00000321327.2	-	6	1112	c.1113C>A	c.(1111-1113)ttC>ttA	p.F371L	PGBD5_ENST00000391860.1_Missense_Mutation_p.F226L|PGBD5_ENST00000525115.1_Missense_Mutation_p.F272L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	272						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGGGCCCCGTGAAAATGATGT	0.597000													43	64					4.44401e-20	5.4086e-20	0.853193	1	0
CD40LG	959	broad.mit.edu	37	X	135741549	135741549	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:135741549C>A	ENST00000370629.2	+	5	817	c.761C>A	c.(760-762)aCg>aAg	p.T254K	CD40LG_ENST00000370628.2_Missense_Mutation_p.T233K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	254			T -> M (in HIGM1).		anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGCTTCACGTCCTTTGGC	0.507000									Immune Deficiency with Hyper-IgM				66	15					9.4991e-31	1.26386e-30	0.870114	1	0
OR1L4	254973	broad.mit.edu	37	9	125486583	125486583	+	Silent	SNP	C	C	T	rs139043736	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:125486583C>T	ENST00000259466.1	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F105F(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTACTTCTTCATGGCATTTG	0.473000													4	219					0	0	0.150653	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735864	172735864	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:172735864C>G	ENST00000506823.1	+	2	790	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Q45E	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	45						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Q45K(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCCGGGGAGCAGCAGGTAAG	0.547000													17	48					0	0	0.575678	0	0
GALNT14	79623	broad.mit.edu	37	2	31167748	31167748	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:31167748C>A	ENST00000349752.5	-	8	1442	c.803G>T	c.(802-804)cGc>cTc	p.R268L	GALNT14_ENST00000406653.1_Missense_Mutation_p.R248L|GALNT14_ENST00000356174.3_Missense_Mutation_p.R235L|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.R273L|GALNT14_ENST00000420311.2_Missense_Mutation_p.R233L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGGTCCAGGCGCCGAGCCTT	0.587000													51	80					4.96213e-28	6.51021e-28	0.870114	1	0
LOXL3	84695	broad.mit.edu	37	2	74763560	74763560	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:74763560C>A	ENST00000264094.3	-	6	1022	c.951G>T	c.(949-951)gaG>gaT	p.E317D	LOXL3_ENST00000409249.1_Missense_Mutation_p.E317D|LOXL3_ENST00000409549.1_Missense_Mutation_p.E317D|LOXL3_ENST00000393937.2_Missense_Mutation_p.E172D|LOXL3_ENST00000409986.1_Missense_Mutation_p.E172D	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	317	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTACCCGGCCCTCTCCAGGGT	0.622000													33	41					1.08312e-15	1.25344e-15	0.740014	1	0
NPAP1	23742	broad.mit.edu	37	15	24922323	24922323	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:24922323C>A	ENST00000329468.2	+	1	1783	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TACTGGACCCCTCATCCTGCC	0.537000													114	21					2.13259e-42	3.06235e-42	0.870114	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													7	74					0	0	0.248553	0	0
OR2T33	391195	broad.mit.edu	37	1	248436753	248436753	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248436753C>T	ENST00000318021.2	-	1	385	c.364G>A	c.(364-366)Gcg>Acg	p.A122T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGACAGCCGCATAGCGGTCA	0.612000													16	62					0	0	0.827153	0	0
SERPING1	710	broad.mit.edu	37	11	57379319	57379319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57379319G>T	ENST00000403558.1	+	6	1654	c.1288G>T	c.(1288-1290)Gag>Tag	p.E430*	SERPING1_ENST00000378323.4_Nonsense_Mutation_p.E392*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.E335*|SERPING1_ENST00000340687.6_Nonsense_Mutation_p.E350*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.E387*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	387					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGAGAAACTGGAGATGTCCAA	0.502000													58	104					1.72845e-40	2.45951e-40	0.870114	1	0
OR1S2	219958	broad.mit.edu	37	11	57970930	57970930	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57970930A>G	ENST00000302592.6	-	1	723	c.724T>C	c.(724-726)Tca>Cca	p.S242P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGTGGATGATACTCCCAGG	0.453000													31	67					0	0	0.760397	0	0
C4orf3	401152	broad.mit.edu	37	4	120221511	120221511	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:120221511G>C	ENST00000399075.4	-	2	578	c.579C>G	c.(577-579)ctC>ctG	p.L193L	C4orf3_ENST00000504110.1_Silent_p.L60L	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	60						integral to membrane		p.L193L(1)		breast(1)|large_intestine(1)|lung(4)	6						AATACACAAAGAGAAACACCA	0.488000													75	64					0	0	0.870114	0	0
MIR514A1	574516	broad.mit.edu	37	X	146360774	146360774	+	RNA	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:146360774C>A	ENST00000385133.1	-	0	88					NR_030238.1																						TCGTACGTGTCATGCGTTACT	0.408000													8	3					5.4927e-09	5.86636e-09	0.307466	1	0
OR4C13	283092	broad.mit.edu	37	11	49974253	49974253	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:49974253T>C	ENST00000555099.1	+	1	311	c.279T>C	c.(277-279)aaT>aaC	p.N93N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATTCAATGGATGTATGA	0.418000													121	160					0	0	0.870114	0	0
EYS	346007	broad.mit.edu	37	6	66205107	66205107	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:66205107A>T	ENST00000503581.1	-	4	734	c.197T>A	c.(196-198)aTa>aAa	p.I66K	EYS_ENST00000342421.5_Missense_Mutation_p.I66K|EYS_ENST00000370616.2_Missense_Mutation_p.I66K|EYS_ENST00000393380.2_Missense_Mutation_p.I66K|EYS_ENST00000370621.3_Missense_Mutation_p.I66K|EYS_ENST00000370618.3_Missense_Mutation_p.I66K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	66					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAAGTATCTATTTTAGTGTT	0.383000													85	138					0	0	0.870114	0	0
KIAA1211	57482	broad.mit.edu	37	4	57173804	57173804	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:57173804T>A	ENST00000504228.1	+	3	329	c.224T>A	c.(223-225)cTg>cAg	p.L75Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.L75Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.L68Q			Q6ZU35	K1211_HUMAN	KIAA1211	75										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GATCTGTTCCTGACCAGTCCC	0.493000													36	38					0	0	0.779181	0	0
POU3F4	5456	broad.mit.edu	37	X	82763828	82763828	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:82763828C>A	ENST00000373200.2	+	1	560	c.496C>A	c.(496-498)Ctc>Atc	p.L166I	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	166					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCACCCGGTGCTCCGAGAGCC	0.647000													6	1					0.00307968	0.00315332	0.278610	1	0
DGKK	139189	broad.mit.edu	37	X	50127734	50127734	+	RNA	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:50127734C>G	ENST00000376025.2	-	0	2495							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGGGCTTGTCTGGTTAATAT	0.388000													113	25					0	0	0.870114	0	0
CT45A1	541466	broad.mit.edu	37	X	134856789	134856789	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:134856789G>T	ENST00000370741.3	+	5	809	c.564G>T	c.(562-564)atG>atT	p.M188I	CT45A1_ENST00000482795.1_3'UTR	NM_001017417.1	NP_001017417.1	Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1	188																	TGAAACGTATGATTTGAGAAT	0.368000													46	495					6.00099e-30	7.93951e-30	0.870114	1	0
FAM47B	170062	broad.mit.edu	37	X	34962248	34962248	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:34962248C>A	ENST00000329357.5	+	1	1336	c.1300C>A	c.(1300-1302)Cat>Aat	p.H434N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	434										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGGAGCGTCCCATCTAAAAGA	0.517000													44	14					8.20599e-20	9.88496e-20	0.859065	1	0
ROCK1	6093	broad.mit.edu	37	18	18600198	18600198	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:18600198C>A	ENST00000399799.1	-	12	2215	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	425	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCAAACTTTCCTGCTTTAATT	0.269000													21	48					7.45023e-12	8.17962e-12	0.592651	1	0
LRIT1	26103	broad.mit.edu	37	10	85992310	85992310	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:85992310C>A	ENST00000372105.3	-	4	1266	c.1245G>T	c.(1243-1245)ctG>ctT	p.L415L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	415						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGAGCTCTCCCAGGGCATCCA	0.607000													48	90					4.86159e-25	6.172e-25	0.870114	1	0
ZIM3	114026	broad.mit.edu	37	19	57647166	57647166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:57647166G>C	ENST00000269834.1	-	5	924	c.539C>G	c.(538-540)tCa>tGa	p.S180*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGAAGGCGTGACTTTGAACT	0.398000													232	171					0	0	0.870114	0	0
YLPM1	56252	broad.mit.edu	37	14	75230942	75230942	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75230942G>T	ENST00000325680.7	+	1	874	c.750G>T	c.(748-750)ccG>ccT	p.P250P	YLPM1_ENST00000552421.1_Silent_p.P250P|YLPM1_ENST00000238571.3_Silent_p.P250P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCACCACCGTCCGCCCCCC	0.567000													101	54					8.64784e-51	1.28086e-50	0.870114	1	0
PFKFB2	5208	broad.mit.edu	37	1	207235301	207235301	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:207235301G>T	ENST00000367080.3	+	3	213	c.89G>T	c.(88-90)tGg>tTg	p.W30L	PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000367079.2_Missense_Mutation_p.W30L|PFKFB2_ENST00000545806.1_5'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	30	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTTCTAGCATGGGCCTCCTAC	0.443000													54	107					5.10652e-33	6.91141e-33	0.870114	1	0
AHNAK	79026	broad.mit.edu	37	11	62299641	62299641	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:62299641G>C	ENST00000378024.4	-	5	2522	c.2248C>G	c.(2248-2250)Ccc>Gcc	p.P750A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	750					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCATCTTGGGCATCTTCAAG	0.517000													152	263					0	0	0.870114	0	0
ZNF451	26036	broad.mit.edu	37	6	57017082	57017082	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:57017082G>T	ENST00000370706.4	+	12	3060	c.2816G>T	c.(2815-2817)gGa>gTa	p.G939V	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G939V|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G891V|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACAGGATTGGATGCTTCTTC	0.353000													58	99					2.76378e-25	3.51822e-25	0.870114	1	0
NAALAD2	10003	broad.mit.edu	37	11	89892474	89892474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:89892474G>T	ENST00000534061.1	+	8	1188	c.958G>T	c.(958-960)Gga>Tga	p.G320*	NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	320	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTATAGTATCGGACCTGGCTT	0.358000													51	24					7.77372e-23	9.68631e-23	0.870114	1	0
HLTF	6596	broad.mit.edu	37	3	148778569	148778569	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:148778569T>G	ENST00000310053.5	-	11	1430	c.1237A>C	c.(1237-1239)Aaa>Caa	p.K413Q	HLTF_ENST00000392912.2_Missense_Mutation_p.K413Q|HLTF_ENST00000465259.1_Missense_Mutation_p.K413Q|HLTF_ENST00000494055.1_Missense_Mutation_p.K413Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	413					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGTTACCTTTCATTTTCTGC	0.299000													38	69					0	0	0.796494	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164099	73164099	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:73164099C>G	ENST00000286657.4	-	18	2521	c.2485G>C	c.(2485-2487)Gac>Cac	p.D829H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	829	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTACAGAGTCTTCATGGATG	0.403000													84	121					0	0	0.870114	0	0
ELMO1	9844	broad.mit.edu	37	7	37355565	37355565	+	Splice_Site	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:37355565C>T	ENST00000310758.4	-	3	726		c.e3-1		ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGGTTTTTTCTGCAAAATAA	0.284000													353	54					0	0	0.870114	0	0
DKK1	22943	broad.mit.edu	37	10	54074250	54074250	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:54074250C>T	ENST00000373970.3	+	1	195	c.56C>T	c.(55-57)gCg>gTg	p.A19V		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	19					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATGGTAGCGGCGGCTCTCGGC	0.607000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	67					0	0	0.870114	0	0
FIGN	55137	broad.mit.edu	37	2	164467857	164467857	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:164467857C>A	ENST00000333129.3	-	3	799	c.485G>T	c.(484-486)aGt>aTt	p.S162I	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	162						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTTGAATAACTAGGTTCTGT	0.517000													41	20					2.24893e-16	2.62841e-16	0.847076	1	0
OR6C74	254783	broad.mit.edu	37	12	55641868	55641868	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:55641868T>A	ENST00000343870.4	+	1	887	c.797T>A	c.(796-798)gTg>gAg	p.V266E		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAAGAAAGAGTGTCATTAAAT	0.383000													69	79					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179537203	179537203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179537203C>A	ENST00000589042.1	-	154	35085	c.34861G>T	c.(34861-34863)Gaa>Taa	p.E11621*	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10320*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11247*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11454	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTACTTCAGGCACTTTA	0.373000													115	370					1.19107e-50	1.75861e-50	0.870114	1	0
EIF5A2	56648	broad.mit.edu	37	3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:170624851C>T	ENST00000295822.2	-	3	382	c.197G>A	c.(196-198)gGc>gAc	p.G66D	EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000460117.1_Intron	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	66					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343000													4	132					0	0	0.150653	0	0
CREBBP	1387	broad.mit.edu	37	16	3778856	3778856	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:3778856G>A	ENST00000262367.5	-	31	7001	c.6192C>T	c.(6190-6192)ccC>ccT	p.P2064P	CREBBP_ENST00000382070.3_Silent_p.P2026P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2064					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGAGCGCTGGGTGAGATGC	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						23	41					0	0	0.624587	0	0
MYO1H	283446	broad.mit.edu	37	12	109872840	109872840	+	Splice_Site	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:109872840A>G	ENST00000310903.5	+	21	2121		c.e21-1		MYO1H_ENST00000431443.2_Splice_Site			B4DNW6	B4DNW6_HUMAN	myosin IH							myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTCACTTCTAGAACCAAAAT	0.373000													16	27					0	0	0.520397	0	0
F5	2153	broad.mit.edu	37	1	169510646	169510646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:169510646G>A	ENST00000367796.3	-	13	3898	c.3697C>T	c.(3697-3699)Cag>Tag	p.Q1233*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q1228*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1228	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGGGCATCTGACCGAGGGCT	0.527000													177	243					0	0	0.870114	0	0
OR1J2	26740	broad.mit.edu	37	9	125273992	125273992	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:125273992C>A	ENST00000335302.5	+	1	912	c.912C>A	c.(910-912)ctC>ctA	p.L304L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTGGGAAACTCTTCAGTAGAG	0.383000													93	21					3.59392e-34	4.94952e-34	0.870114	1	0
GUF1	60558	broad.mit.edu	37	4	44688653	44688653	+	Silent	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:44688653A>G	ENST00000281543.5	+	8	1055	c.861A>G	c.(859-861)gtA>gtG	p.V287V	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	287					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATAAAATTGTATCTGCACATA	0.368000													89	38					0	0	0.870114	0	0
DNAH7	56171	broad.mit.edu	37	2	196723252	196723252	+	Silent	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:196723252A>T	ENST00000312428.6	-	43	8113	c.8013T>A	c.(8011-8013)ggT>ggA	p.G2671G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2671	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCAAGGCACCTGCCAGGT	0.458000													31	20					0	0	0.796494	0	0
PER1	5187	broad.mit.edu	37	17	8044495	8044495	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8044495T>A	ENST00000317276.4	-	23	4001	c.3764A>T	c.(3763-3765)cAa>cTa	p.Q1255L	PER1_ENST00000581082.1_Missense_Mutation_p.Q1232L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1255	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCCCGCCTTGGGCCTCCTC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					177	260					0	0	0.870114	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119740	38119740	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:38119740C>G	ENST00000406386.3	+	7	1432	c.1177C>G	c.(1177-1179)Ccc>Gcc	p.P393A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	393					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCCCAACAGAAC	0.562000													96	102					0	0	0.870114	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													5	128					0	0	0.248553	0	0
FLNC	2318	broad.mit.edu	37	7	128478683	128478683	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:128478683G>C	ENST00000325888.8	+	8	1498	c.1237G>C	c.(1237-1239)Gtg>Ctg	p.V413L	FLNC_ENST00000346177.6_Missense_Mutation_p.V413L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	413					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTTGCTGTGGTGATCGTGGA	0.657000													56	27					0	0	0.870114	0	0
OR2F2	135948	broad.mit.edu	37	7	143633045	143633045	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:143633045G>T	ENST00000408955.2	+	1	787	c.720G>T	c.(718-720)acG>acT	p.T240T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTTCCACACGTGTGCCTCTC	0.517000													46	26					1.76056e-25	2.25946e-25	0.859065	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319071	21319071	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:21319071G>T	ENST00000583088.1	+	3	1312	c.417G>T	c.(415-417)gaG>gaT	p.E139D	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E139D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCTCCATCGAGACGCAGACCA	0.672000										Prostate(3;0.18)			7	22					0.000442599	0.000455162	0.335167	1	0
HNRNPF	3185	broad.mit.edu	37	10	43882406	43882406	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:43882406G>A	ENST00000443950.2	-	3	1413	c.927C>T	c.(925-927)ttC>ttT	p.F309F	HNRNPF_ENST00000337970.3_Silent_p.F309F|HNRNPF_ENST00000356053.3_Silent_p.F309F|HNRNPF_ENST00000544000.1_Silent_p.F309F|HNRNPF_ENST00000357065.4_Silent_p.F309F	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	309	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGAGAGGAGAGAAGAAGTTGT	0.522000													55	69					0	0	0.870114	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954553	10954553	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:10954553A>G	ENST00000240687.2	-	1	673	c.617T>C	c.(616-618)cTc>cCc	p.L206P		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	206					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CCGCAGGGAGAGGATCAAGAG	0.498000													24	32					0	0	0.667858	0	0
OR5I1	10798	broad.mit.edu	37	11	55703661	55703661	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55703661G>T	ENST00000301532.3	-	1	215	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATAGCAAAGGTCTACAAATG	0.383000													29	39					3.73988e-18	4.43699e-18	0.706142	1	0
DNAJB11	51726	broad.mit.edu	37	3	186299209	186299209	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:186299209G>T	ENST00000439351.1	+	6	1435	c.506G>T	c.(505-507)tGc>tTc	p.C169F	DNAJB11_ENST00000265028.3_Missense_Mutation_p.C169F			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	169					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AAACGGAAGTGCAATTGTCGG	0.517000													55	145					5.82388e-19	6.97977e-19	0.870114	1	0
SHANK2	22941	broad.mit.edu	37	11	70333070	70333070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70333070C>A	ENST00000338508.4	-	32	3330	c.3331G>T	c.(3331-3333)Gag>Tag	p.E1111*	SHANK2_ENST00000409161.1_Nonsense_Mutation_p.E514*|SHANK2_ENST00000423696.2_Nonsense_Mutation_p.E731*|SHANK2_ENST00000449833.2_Nonsense_Mutation_p.E515*			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	731					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCACATCCTCATCCCCCAGG	0.692000													39	654					4.0492e-12	4.47693e-12	0.827153	1	0
PSMD14	10213	broad.mit.edu	37	2	162247657	162247657	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:162247657A>G	ENST00000409682.3	+	9	1317	c.613A>G	c.(613-615)Att>Gtt	p.I205V		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	205					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						CTCCATTACTATTAACTATCG	0.249000													3	2					0	0	0.115264	0	0
ZNF728	388523	broad.mit.edu	37	19	23159469	23159469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:23159469C>A	ENST00000594710.1	-	4	815	c.670G>T	c.(670-672)Gga>Tga	p.G224*		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GGTTTCTCTCCAGTATGAATT	0.358000													23	38					2.44723e-14	2.78417e-14	0.681144	1	0
EPDR1	54749	broad.mit.edu	37	7	37960496	37960496	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:37960496C>A	ENST00000559325.1	+	1	334	c.315C>A	c.(313-315)gcC>gcA	p.A105A	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCCTCAGCGCCCCCTTGGGCT	0.721000													40	5					3.86002e-21	4.73455e-21	0.870114	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125284872	125284872	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:125284872C>A	ENST00000431078.1	+	10	1849	c.1485C>A	c.(1483-1485)gaC>gaA	p.D495E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	495	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGCCCCGACAATCTCACCG	0.448000													23	75					0.000229342	0.000236886	0.608945	1	0
SI	6476	broad.mit.edu	37	3	164737396	164737396	+	Silent	SNP	G	G	T	rs150297357	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:164737396G>T	ENST00000264382.3	-	28	3479	c.3417C>A	c.(3415-3417)ccC>ccA	p.P1139P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1139	Sucrase.				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)	CTACACCAGGGGGTTGGTCTC	0.443000										HNSCC(35;0.089)			82	76					1.02218e-41	1.46337e-41	0.870114	1	0
KAT5	10524	broad.mit.edu	37	11	65480261	65480261	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:65480261A>G	ENST00000341318.4	+	2	437	c.203A>G	c.(202-204)aAg>aGg	p.K68R	KAT5_ENST00000377046.3_Missense_Mutation_p.K35R|KAT5_ENST00000352980.4_Missense_Mutation_p.K35R|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.K68R|KAT5_ENST00000534650.1_5'UTR	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	35					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CTGAGCGTGAAGGACATCAGT	0.562000													39	78					0	0	0.834066	0	0
PLD5	200150	broad.mit.edu	37	1	242451748	242451748	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:242451748C>A	ENST00000442594.2	-	4	644	c.135G>T	c.(133-135)atG>atT	p.M45I	PLD5_ENST00000536534.1_Missense_Mutation_p.M137I|PLD5_ENST00000427495.1_Missense_Mutation_p.M75I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	137						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGAGTAAATTCATCCAGCCTT	0.403000													37	57					7.61001e-30	1.00401e-29	0.812448	1	0
ABCA12	26154	broad.mit.edu	37	2	215917308	215917308	+	Splice_Site	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:215917308G>A	ENST00000272895.7	-	5	629	c.409_splice	c.e5-1	p.A137_splice		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	137					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATACTGTGGCTGTAATCAA	0.428000													35	13					0	0	0.796494	0	0
SLC27A2	11001	broad.mit.edu	37	15	50515307	50515307	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:50515307A>G	ENST00000267842.5	+	5	1350	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SLC27A2_ENST00000380902.4_Missense_Mutation_p.N320S|SLC27A2_ENST00000544960.1_Missense_Mutation_p.N138S	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	373					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGATTTATGAATTATGCGAGA	0.393000													52	75					0	0	0.870114	0	0
MLH3	27030	broad.mit.edu	37	14	75500173	75500173	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75500173C>G	ENST00000355774.2	-	7	3879	c.3664G>C	c.(3664-3666)Gtg>Ctg	p.V1222L	MLH3_ENST00000238662.7_Intron|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000380968.2_Missense_Mutation_p.V168L|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.V1222L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1222					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGCTGATCCACCAGCACGAGC	0.478000								Mismatch excision repair (MMR)					25	71					0	0	0.740014	0	0
NAA11	84779	broad.mit.edu	37	4	80246866	80246866	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:80246866C>T	ENST00000286794.4	-	1	338	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	56	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TTGGCCAGAACATAGCCCACA	0.532000													65	134					0	0	0.870114	0	0
FHL5	9457	broad.mit.edu	37	6	97052714	97052714	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:97052714C>G	ENST00000326771.2	+	4	628	c.248C>G	c.(247-249)gCc>gGc	p.A83G	FHL5_ENST00000541107.1_Missense_Mutation_p.A83G	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	83	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCTTTTGCTGCCAAGGATGAG	0.507000													63	40					0	0	0.870114	0	0
BAGE2	85319	broad.mit.edu	37	21	11047562	11047562	+	RNA	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:11047562A>G	ENST00000470054.1	-	0	692									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACACGTATCACACACTAGCA	0.333000													32	640					0	0	0.788014	0	0
TSNARE1	203062	broad.mit.edu	37	8	143396415	143396415	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:143396415C>T	ENST00000519651.1	-	6	466	c.363G>A	c.(361-363)cgG>cgA	p.R121R	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Silent_p.R340R|TSNARE1_ENST00000524325.1_Silent_p.R340R|TSNARE1_ENST00000307180.3_Silent_p.R341R			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	341					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGTTTTCAGCCGGTCCAGCT	0.657000													5	147					0	0	0.184627	0	0
GPR123	84435	broad.mit.edu	37	10	134885501	134885501	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:134885501G>T	ENST00000607359.1	+	2	260	c.260G>T	c.(259-261)tGg>tTg	p.W87L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCATGGGCGTGGGTCTTCAGA	0.652000													3	5					0.004672	0.00477334	0.115264	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51631242	51631242	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:51631242G>T	ENST00000440804.3	+	5	1119	c.1052G>T	c.(1051-1053)gGg>gTg	p.G351V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G351V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	351					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGGTGGTCGGGGGAGCTGGA	0.552000													83	233					1.46924e-35	2.03533e-35	0.870114	1	0
STIP1	10963	broad.mit.edu	37	11	63967640	63967640	+	Splice_Site	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:63967640G>T	ENST00000358794.5	+	10	1814		c.e10-1		STIP1_ENST00000305218.4_Splice_Site|STIP1_ENST00000538945.1_Splice_Site			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1						axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTCTTCCCCAGGGGACTATCC	0.498000													150	203					2.45841e-106	3.80892e-106	0.870114	1	0
DCHS2	54798	broad.mit.edu	37	4	155241774	155241774	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:155241774C>A	ENST00000357232.3	-	14	3411	c.3412G>T	c.(3412-3414)Gct>Tct	p.A1138S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1138	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACATTCACAGCCTGATCAGAT	0.458000													100	139					9.45097e-43	1.36129e-42	0.870114	1	0
ANKMY1	51281	broad.mit.edu	37	2	241494415	241494415	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:241494415C>T	ENST00000401804.1	-	3	342	c.204G>A	c.(202-204)gcG>gcA	p.A68A	ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Silent_p.A21A|ANKMY1_ENST00000373318.2_Silent_p.A68A|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000361678.4_Silent_p.A68A|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000406958.1_Silent_p.A68A|ANKMY1_ENST00000403283.1_Silent_p.A147A|ANKMY1_ENST00000405523.3_Silent_p.A68A			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGTCCTGCGCCCTCAGCG	0.582000													4	182					0	0	0.150653	0	0
FAM181A	90050	broad.mit.edu	37	14	94394802	94394802	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:94394802G>T	ENST00000267594.5	+	3	664	c.357G>T	c.(355-357)cgG>cgT	p.R119R	FAM181A_ENST00000557719.1_Silent_p.R57R|FAM181A_ENST00000557000.2_Silent_p.R57R|FAM181A_ENST00000556222.1_Silent_p.R57R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	119								p.R119L(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGCTCCCGCGGGGCCTTCCTG	0.657000													21	33					7.41877e-09	7.90553e-09	0.608945	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454928	84454928	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:84454928C>A	ENST00000377084.2	-	1	1600	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	239	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCGCAGACCACTCGGCCGATC	0.527000													36	53					2.6416e-12	2.94136e-12	0.819951	1	0
OR8K5	219453	broad.mit.edu	37	11	55927515	55927515	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55927515G>C	ENST00000313447.1	-	1	278	c.279C>G	c.(277-279)tcC>tcG	p.S93S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGCATAATAGGAAATAGTAT	0.398000													67	77					0	0	0.870114	0	0
LAIR1	3903	broad.mit.edu	37	19	54868568	54868568	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54868568C>T	ENST00000391743.3	-	4	649	c.369G>A	c.(367-369)acG>acA	p.T123T	LAIR1_ENST00000391742.2_Silent_p.T141T|LAIR1_ENST00000348231.4_Silent_p.T124T|LAIR1_ENST00000474878.1_Silent_p.T123T|LAIR1_ENST00000434277.2_Silent_p.T140T|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Silent_p.T134T			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	141						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACGGCCTCTGCGTGGGTCCTG	0.592000													14	19					0	0	0.500413	0	0
INTS1	26173	broad.mit.edu	37	7	1539130	1539130	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:1539130C>T	ENST00000389470.4	-	7	1206	c.1207G>A	c.(1207-1209)Gtt>Att	p.V403I	INTS1_ENST00000404767.3_Missense_Mutation_p.V275I			Q8N201	INT1_HUMAN	integrator complex subunit 1	275					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCGCCCGCAACGCGGCCCGCC	0.682000													6	23					0	0	0.248553	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011284	34011284	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:34011284T>A	ENST00000382499.2	-	31	3965	c.3966A>T	c.(3964-3966)ccA>ccT	p.P1322P	SYNJ1_ENST00000382491.3_Silent_p.P1236P|SYNJ1_ENST00000322229.7_Silent_p.P1283P|SYNJ1_ENST00000433931.2_Silent_p.P1322P|SYNJ1_ENST00000357345.3_Silent_p.P1267P	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1283	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTGGTTGTGGTGGGGTTTCCA	0.507000													142	238					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13735961	13735961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:13735961G>A	ENST00000265104.4	-	67	11640	c.11536C>T	c.(11536-11538)Cag>Tag	p.Q3846*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3846					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGAAACTGGCGAAGCGAA	0.468000									Kartagener syndrome				65	173					0	0	0.870114	0	0
PTX4	390667	broad.mit.edu	37	16	1536306	1536306	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:1536306G>T	ENST00000447419.2	-	3	1096	c.1071C>A	c.(1069-1071)gaC>gaA	p.D357E	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.D352E			Q96A99	PTX4_HUMAN	pentraxin 4, long	357	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCACTGGCCGTCCAGCAGCA	0.672000													28	31					2.12542e-12	2.37221e-12	0.706142	1	0
FAM227B	196951	broad.mit.edu	37	15	49663561	49663561	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:49663561G>T	ENST00000299338.6	-	12	1351	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TATGCTCTTGGGTTGTTCAGA	0.289000													188	49					3.30089e-99	5.06423e-99	0.870114	1	0
HIPK3	10114	broad.mit.edu	37	11	33358705	33358705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:33358705G>T	ENST00000303296.4	+	4	1611	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	HIPK3_ENST00000456517.1_Nonsense_Mutation_p.E436*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.E436*|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000379016.3_Nonsense_Mutation_p.E436*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	436	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTTTGCAAAGAAACAGATAT	0.313000													24	30					4.26978e-12	4.69875e-12	0.654019	1	0
ZP2	7783	broad.mit.edu	37	16	21213115	21213115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:21213115C>T	ENST00000574002.1	-	14	1898	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.M463I|ZP2_ENST00000219593.4_Missense_Mutation_p.M472I			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	472	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGTTTAGTAGCATGTCATTCC	0.413000													83	120					0	0	0.870114	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736646	12736646	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:12736646C>T	ENST00000380682.1	+	16	4207	c.3701C>T	c.(3700-3702)cCc>cTc	p.P1234L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1234					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGCCACACCCGTGGAGTCG	0.597000													92	23					0	0	0.870114	0	0
VPS13D	55187	broad.mit.edu	37	1	12557603	12557603	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:12557603G>C	ENST00000358136.3	+	68	12842	c.12712G>C	c.(12712-12714)Ggg>Cgg	p.G4238R	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G236R|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4213R|VPS13D_ENST00000543710.1_Missense_Mutation_p.G42R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4237					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCCCCAGGGGCTGCTTCC	0.517000													42	84					0	0	0.870114	0	0
NOX5	79400	broad.mit.edu	37	15	69335139	69335139	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:69335139G>T	ENST00000260364.5	+	11	1888	c.1587G>T	c.(1585-1587)tcG>tcT	p.S529S	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.S501S|NOX5_ENST00000530406.2_Silent_p.S519S|NOX5_ENST00000455873.3_Silent_p.S512S|NOX5_ENST00000388866.3_Silent_p.S547S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	547	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTCAAAGGTCGTCCAAGGTAG	0.527000													40	7					3.61848e-18	4.3038e-18	0.834066	1	0
OR14J1	442191	broad.mit.edu	37	6	29274690	29274690	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:29274690C>A	ENST00000377160.2	+	1	288	c.224C>A	c.(223-225)aCa>aAa	p.T75K		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATCTCTGTCACAGTCCCCCAG	0.453000													277	73					5.24693e-114	8.18312e-114	0.870114	1	0
GPR158	57512	broad.mit.edu	37	10	25883321	25883321	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:25883321C>A	ENST00000376351.3	+	9	2352	c.1993C>A	c.(1993-1995)Cca>Aca	p.P665T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	665						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTTGATTCCAAAGGTATT	0.338000													44	98					1.15505e-17	1.36007e-17	0.847076	1	0
SCN1A	6323	broad.mit.edu	37	2	166854615	166854615	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:166854615C>A	ENST00000423058.2	-	23	4426	c.4409G>T	c.(4408-4410)gGg>gTg	p.G1470V	SCN1A_ENST00000409050.1_Missense_Mutation_p.G1442V|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1470V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1459V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1470			G -> W (in SMEI; dbSNP:rs121917924).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAAGAAGGACCCAAAGATGAT	0.338000													43	13					4.16155e-14	4.7231e-14	0.840704	1	0
CHRD	8646	broad.mit.edu	37	3	184099067	184099067	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:184099067C>G	ENST00000204604.1	+	3	543	c.297C>G	c.(295-297)tgC>tgG	p.C99W	CHRD_ENST00000450923.1_Missense_Mutation_p.C99W|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.C99W	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	99	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGTCAGCTGCAAGAACATCA	0.647000													21	43					0	0	0.624587	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299911	107299911	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:107299911T>A	ENST00000282251.5	-	8	1074	c.1047A>T	c.(1045-1047)agA>agT	p.R349S	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R349S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	349							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GGTTAGATTCTCTTCTACACG	0.348000													55	27					0	0	0.870114	0	0
C1orf168	199920	broad.mit.edu	37	1	57258099	57258099	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:57258099T>C	ENST00000343433.6	-	2	467	c.387A>G	c.(385-387)aaA>aaG	p.K129K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	129										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCACCATTACTTTTTCCTTAG	0.418000													116	176					0	0	0.870114	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165320	23165320	+	RNA	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:23165320C>T	ENST00000390317.2	+	0	168				MIR650_ENST00000385101.1_RNA																							CCACCATGGCCTGGGCTCTGC	0.662000													5	19					0	0	0.217242	0	0
MYH7	4625	broad.mit.edu	37	14	23886825	23886825	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:23886825G>A	ENST00000355349.3	-	31	4402	c.4240C>T	c.(4240-4242)Ctg>Ttg	p.L1414L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414			L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCTTCTCCAGCGAGGAGCAC	0.617000													128	81					0	0	0.870114	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262387	140262387	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140262387C>G	ENST00000289272.2	+	1	534	c.534C>G	c.(532-534)ttC>ttG	p.F178L	PCDHA13_ENST00000409494.1_Missense_Mutation_p.F178L|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGATTATTTCACTTTGGACG	0.433000													118	21					0	0	0.870114	0	0
MROH2B	133558	broad.mit.edu	37	5	41048516	41048516	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:41048516C>G	ENST00000399564.4	-	16	2044	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	MROH2B_ENST00000506092.2_Missense_Mutation_p.G87R	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCAAAAGCCCTATTGCACCA	0.458000													45	63					0	0	0.847076	0	0
PCDH15	65217	broad.mit.edu	37	10	56106124	56106124	+	Splice_Site	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:56106124C>A	ENST00000373965.2	-	6	989		c.e6+1		PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTTACATACCGGATCATCT	0.308000										HNSCC(58;0.16)			40	59					8.16277e-20	9.85812e-20	0.827153	1	0
ESD	2098	broad.mit.edu	37	13	47351749	47351749	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:47351749C>A	ENST00000378720.3	-	9	792	c.610G>T	c.(610-612)Gct>Tct	p.A204S	ESD_ENST00000378697.1_Missense_Mutation_p.A175S	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	204						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	AGGTGGGTAGCATCATAAGCC	0.343000													71	120					4.83248e-46	7.06863e-46	0.870114	1	0
RNF6	6049	broad.mit.edu	37	13	26793609	26793609	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:26793609G>C	ENST00000381588.4	-	3	930	c.178C>G	c.(178-180)Ctt>Gtt	p.L60V	RNF6_ENST00000346166.3_Missense_Mutation_p.L60V|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.L60V|RNF6_ENST00000399762.2_De_novo_Start_InFrame	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	60					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTGCCTAAAAGATTATGGTCT	0.383000													58	73					0	0	0.870114	0	0
CDH10	1008	broad.mit.edu	37	5	24537586	24537586	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:24537586C>T	ENST00000264463.4	-	3	936	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAAACTCTGACTCTGGCTCTA	0.418000										HNSCC(23;0.051)			94	123					0	0	0.870114	0	0
C6	729	broad.mit.edu	37	5	41201815	41201815	+	Splice_Site	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:41201815G>C	ENST00000263413.3	-	3	409	c.143_splice	c.e3-1	p.Q49_splice	C6_ENST00000337836.5_Splice_Site_p.Q49_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	49	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTACTATTTGTCTGTAACCA	0.363000													51	79					0	0	0.870114	0	0
NLRP11	204801	broad.mit.edu	37	19	56300317	56300317	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56300317G>C	ENST00000443188.1	-	11	3421	c.2711C>G	c.(2710-2712)gCc>gGc	p.A904G	NLRP11_ENST00000360133.3_Missense_Mutation_p.A850G|NLRP11_ENST00000592953.1_Missense_Mutation_p.A805G|NLRP11_ENST00000589824.2_Missense_Mutation_p.A850G|NLRP11_ENST00000589093.1_Missense_Mutation_p.A904G	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	904							ATP binding	p.A904V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGACAGCAGGCACTGGTTAA	0.458000													21	53					0	0	0.827153	0	0
FRK	2444	broad.mit.edu	37	6	116381174	116381174	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:116381174G>A	ENST00000606080.1	-	1	747	c.301C>T	c.(301-303)Cct>Tct	p.P101S		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	101	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TAGTTAGAAGGAATATAGCCT	0.468000													124	54					0	0	0.870114	0	0
FBXO7	25793	broad.mit.edu	37	22	32894327	32894327	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:32894327C>A	ENST00000266087.7	+	9	1706	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FBXO7_ENST00000397426.1_Missense_Mutation_p.P346Q|FBXO7_ENST00000382058.3_Missense_Mutation_p.P381Q	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	460					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTGGAGACCCAATCAGTTCA	0.552000													4	179					0.150653	0.151619	0.150653	1	0
GPR149	344758	broad.mit.edu	37	3	154138918	154138918	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:154138918T>C	ENST00000389740.2	-	3	1632	c.1533A>G	c.(1531-1533)ccA>ccG	p.P511P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	511						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTCTTCTTTCTGGCCCTTCAG	0.408000													79	163					0	0	0.870114	0	0
PRKCB	5579	broad.mit.edu	37	16	23847649	23847649	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:23847649C>G	ENST00000303531.7	+	1	305	c.153C>G	c.(151-153)agC>agG	p.S51R	PRKCB_ENST00000498058.1_Missense_Mutation_p.S51R|PRKCB_ENST00000321728.7_Missense_Mutation_p.S51R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	51					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCTTCTGCAGCCACTGCACCG	0.687000													45	73					0	0	0.870114	0	0
IPMK	253430	broad.mit.edu	37	10	59955934	59955934	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:59955934T>C	ENST00000373935.3	-	6	1476	c.1154A>G	c.(1153-1155)gAt>gGt	p.D385G		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	385						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ATGAGCAAAATCTATCATTCG	0.363000													95	143					0	0	0.870114	0	0
IQCC	55721	broad.mit.edu	37	1	32672224	32672224	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:32672224A>C	ENST00000537469.1	+	3	588	c.541A>C	c.(541-543)Atg>Ctg	p.M181L	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.M101L	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	101										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGGAGGAGATGGTGCTGAA	0.547000													56	77					0	0	0.870114	0	0
CFHR5	81494	broad.mit.edu	37	1	196965026	196965026	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:196965026G>A	ENST00000367414.5	+	5	915	c.859G>A	c.(859-861)Gtt>Att	p.V287I	CFHR5_ENST00000256785.4_Missense_Mutation_p.V263I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	263	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCCACTTGTGTTGGTAAATA	0.289000													28	35					0	0	0.706142	0	0
UNC45B	146862	broad.mit.edu	37	17	33501357	33501357	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:33501357C>G	ENST00000268876.5	+	14	2030	c.1933C>G	c.(1933-1935)Ctc>Gtc	p.L645V	UNC45B_ENST00000433649.1_Missense_Mutation_p.L643V|UNC45B_ENST00000394570.2_Missense_Mutation_p.L643V|UNC45B_ENST00000591048.1_Missense_Mutation_p.L564V|UNC45B_ENST00000378449.1_Missense_Mutation_p.L564V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	645					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TAGTGCCATCCTCACTGACCA	0.597000													4	108					0	0	0.184627	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507004	98507004	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:98507004C>G	ENST00000265261.6	+	7	624	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186V|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L186V	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	186					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GACAGTGATTCTCACTGCTTT	0.383000													50	124					0	0	0.870114	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412204	139412204	+	Splice_Site	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:139412204C>A	ENST00000277541.6	-	8	1516	c.1441_splice	c.e8+1	p.G481_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			48	14					1.07234e-20	1.31188e-20	0.870114	1	0
GPHB5	122876	broad.mit.edu	37	14	63779732	63779732	+	RNA	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:63779732C>A	ENST00000539258.1	-	0	358							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GGTCGACTCCCGGGGCACAGT	0.582000													5	40					0.014758	0.0149806	0.184627	1	0
LMX1A	4009	broad.mit.edu	37	1	165218667	165218667	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:165218667C>T	ENST00000342310.3	-	4	856	c.474G>A	c.(472-474)gtG>gtA	p.V158V	LMX1A_ENST00000294816.2_Silent_p.V158V|LMX1A_ENST00000367893.4_Silent_p.V158V	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGGGCTCACCAGGCTGA	0.612000													21	67					0	0	0.592651	0	0
RGS21	431704	broad.mit.edu	37	1	192321323	192321323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:192321323G>T	ENST00000417209.2	+	4	409	c.235G>T	c.(235-237)Gaa>Taa	p.E79*		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	79	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TGAATTCATTGAAGCTGATGC	0.383000													14	34					2.32078e-09	2.50135e-09	0.479597	1	0
TMEM19	55266	broad.mit.edu	37	12	72090220	72090220	+	Silent	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:72090220A>G	ENST00000266673.5	+	3	843	c.249A>G	c.(247-249)ctA>ctG	p.L83L	TMEM19_ENST00000549735.1_Silent_p.L83L|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	83						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTCAGGGCTAGTCGTTGGAT	0.303000													45	99					0	0	0.870114	0	0
MAP3K5	4217	broad.mit.edu	37	6	137015389	137015389	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:137015389C>T	ENST00000359015.4	-	7	1502	c.1142G>A	c.(1141-1143)aGc>aAc	p.S381N		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	381					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTCCTTCGCTTTGCACCAT	0.388000													56	253					0	0	0.870114	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24980015	24980015	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:24980015C>A	ENST00000289968.6	-	5	420	c.351G>T	c.(349-351)aaG>aaT	p.K117N	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.K117N|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.K117N	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	117	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCACGATCTCCTTCTCAACAA	0.537000													86	109					2.58158e-40	3.66243e-40	0.870114	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14852103	14852103	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:14852103G>A	ENST00000358984.4	+	36	3983	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1353										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAAAGAGACCGATGTGAAACA	0.388000													7	32					0	0	0.278610	0	0
ERCC5	2073	broad.mit.edu	37	13	103519118	103519118	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:103519118G>T	ENST00000355739.4	+	11	3879	c.2456G>T	c.(2455-2457)cGg>cTg	p.R819L	BIVM-ERCC5_ENST00000602836.1_Silent_p.A1244A|ERCC5_ENST00000375954.1_Missense_Mutation_p.R52L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTGGAGCGCGGCATGTCTAT	0.428000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				32	46					3.11337e-16	3.6297e-16	0.769981	1	0
ASMT	438	broad.mit.edu	37	X	1748783	1748783	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:1748783G>A	ENST00000381241.3	+	5	712	c.513G>A	c.(511-513)gtG>gtA	p.V171V	ASMT_ENST00000381229.4_Silent_p.V171V|ASMT_ENST00000381233.3_Silent_p.V171V|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	171					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGAAGCGTGCTGACCGCCT	0.552000													110	156					0	0	0.870114	0	0
LILRA5	353514	broad.mit.edu	37	19	54822656	54822656	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54822656G>T	ENST00000446712.3	-	4	782	c.704C>A	c.(703-705)aCa>aAa	p.T235K	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Intron|LILRA5_ENST00000432233.3_Missense_Mutation_p.T247K|LILRA5_ENST00000301219.3_Intron	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	0					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCTGAATTGTACTAGAGAA	0.527000													41	74					9.85913e-13	1.10563e-12	0.847076	1	0
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:65175550C>G	ENST00000381210.3	-	6	761	c.651G>C	c.(649-651)ttG>ttC	p.L217F	TECRL_ENST00000507440.1_Missense_Mutation_p.L217F|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	217					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCACCATTATCAAATTTTTCA	0.338000													85	139					0	0	0.870114	0	0
OR51L1	119682	broad.mit.edu	37	11	5020434	5020434	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:5020434G>C	ENST00000321543.1	+	1	222	c.222G>C	c.(220-222)ggG>ggC	p.G74G		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGACCTGGGGATGTCCCTGT	0.458000													96	169					0	0	0.870114	0	0
MACC1	346389	broad.mit.edu	37	7	20198179	20198179	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:20198179A>G	ENST00000400331.5	-	5	2113	c.1805T>C	c.(1804-1806)cTc>cCc	p.L602P	MACC1_ENST00000332878.4_Missense_Mutation_p.L602P|MACC1_ENST00000589011.1_Missense_Mutation_p.L602P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	602	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTTACCTCTGAGGACTCCTAC	0.393000													453	52					0	0	0.870114	0	0
IVL	3713	broad.mit.edu	37	1	152883976	152883976	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:152883976C>A	ENST00000368764.3	+	2	1767	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	IVL_ENST00000392667.2_Missense_Mutation_p.P422H			P07476	INVO_HUMAN	involucrin	568					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTATTGCTTCCTGTAGAGCAC	0.572000													65	87					4.66136e-34	6.38227e-34	0.870114	1	0
RPS13	6207	broad.mit.edu	37	11	17095985	17095985	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:17095985C>G	ENST00000525634.1	-	6	596	c.451G>C	c.(451-453)Gca>Cca	p.A151P	RPS13_ENST00000228140.2_Silent_p.S139S|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	151					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CAAATTTATGCGACCAGGGCA	0.318000													17	37					0	0	0.575678	0	0
KMT2D	8085	broad.mit.edu	37	12	49433007	49433007	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:49433007G>A	ENST00000301067.7	-	33	8363	c.8364C>T	c.(8362-8364)agC>agT	p.S2788S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCCTCACCGGCTGTTCACAT	0.567000													4	148					0	0	0.150653	0	0
NLRP5	126206	broad.mit.edu	37	19	56539074	56539074	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56539074C>A	ENST00000390649.3	+	7	1475	c.1475C>A	c.(1474-1476)gCc>gAc	p.A492D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	492	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGAGCGTCGCCCCCTTCAAC	0.632000													26	32					1.42536e-11	1.55764e-11	0.681144	1	0
PMP22	5376	broad.mit.edu	37	17	15134181	15134181	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:15134181C>A	ENST00000494511.1	-	3	523	c.357G>T	c.(355-357)aaG>aaT	p.K119N	PMP22_ENST00000312280.3_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000395936.1_3'UTR			Q01453	PMP22_HUMAN	peripheral myelin protein 22	0					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TCTGTTTTCCCTTCCTCCCTT	0.507000													58	79					2.14255e-21	2.64173e-21	0.870114	1	0
TRIP12	9320	broad.mit.edu	37	2	230652326	230652326	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:230652326T>C	ENST00000283943.5	-	32	4843	c.4665A>G	c.(4663-4665)gcA>gcG	p.A1555A	TRIP12_ENST00000389045.3_Silent_p.A1285A|TRIP12_ENST00000389044.4_Silent_p.A1603A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1555	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCCGATCAAATGCAGTTACAT	0.378000													53	20					0	0	0.870114	0	0
ATAD5	79915	broad.mit.edu	37	17	29220783	29220783	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:29220783T>A	ENST00000321990.4	+	21	5290	c.4912T>A	c.(4912-4914)Tgt>Agt	p.C1638S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1638					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAAAAAATGTTCTGCCCT	0.378000													106	180					0	0	0.870114	0	0
EIF2B3	8891	broad.mit.edu	37	1	45407189	45407189	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:45407189T>G	ENST00000360403.2	-	4	569	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Missense_Mutation_p.K148T	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	148					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGCTTTTTTTTTCCCCTTTTG	0.368000													78	110					0	0	0.870114	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994058	106994058	+	RNA	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:106994058G>T	ENST00000390624.2	-	0	185																											GAGTCTCAGGGACCCCCCAGG	0.577000													71	142					1.77355e-41	2.53135e-41	0.870114	1	0
LMOD3	56203	broad.mit.edu	37	3	69168975	69168975	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:69168975T>C	ENST00000420581.2	-	2	710	c.531A>G	c.(529-531)gcA>gcG	p.A177A	LMOD3_ENST00000475434.1_Silent_p.A177A|LMOD3_ENST00000489031.1_Silent_p.A177A	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	177	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTTGTTCCTTTGCTTTGCCTT	0.418000													10	5					0	0	0.335167	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877870	76877870	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76877870A>T	ENST00000328299.3	+	3	539	c.391A>T	c.(391-393)Acc>Tcc	p.T131S	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	131					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGTGTCCCATACCAGCGTTCC	0.423000													69	75					0	0	0.870114	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:32007617G>A	ENST00000330798.2	+	1	63	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522000													50	74					0	0	0.870114	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918677	97918677	+	RNA	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:97918677A>T	ENST00000534948.1	+	0	3455							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACAAGTGTCATCAATACCAC	0.393000													33	45					0	0	0.750413	0	0
PHC3	80012	broad.mit.edu	37	3	169866864	169866864	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:169866864C>T	ENST00000474275.1	-	5	598	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PHC3_ENST00000495893.1_Intron|PHC3_ENST00000494943.1_Intron|PHC3_ENST00000467570.1_Intron			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	547	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTGGTAGCTCATATCTTACC	0.353000													15	27					0	0	0.520397	0	0
ALOX5	240	broad.mit.edu	37	10	45941034	45941034	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:45941034C>A	ENST00000374391.2	+	14	1977	c.1924C>A	c.(1924-1926)Ctc>Atc	p.L642I	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.L585I	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	642	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCGCAAGAACCTCGAGGCCAT	0.542000													47	83					2.43468e-25	3.10768e-25	0.870114	1	0
KIAA1257	57501	broad.mit.edu	37	3	128712028	128712028	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:128712028C>T	ENST00000265068.5	-	2	287	c.120G>A	c.(118-120)aaG>aaA	p.K40K	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Silent_p.K40K	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	40										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGCCCTGGCCTTGGCCTTCA	0.612000													5	166					0	0	0.184627	0	0
ASXL3	80816	broad.mit.edu	37	18	31318971	31318971	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:31318971G>A	ENST00000269197.5	+	11	1603	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTTGTTATCGATCAGTTAGA	0.393000													14	57					0	0	0.435327	0	0
BARX2	8538	broad.mit.edu	37	11	129306871	129306871	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:129306871C>T	ENST00000281437.4	+	2	509	c.413C>T	c.(412-414)aCc>aTc	p.T138I	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	138										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CGGAGTCGCACCATCTTCACC	0.627000													10	6					0	0	0.387290	0	0
OCA2	4948	broad.mit.edu	37	15	28230301	28230301	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:28230301T>A	ENST00000354638.3	-	13	1428	c.1273A>T	c.(1273-1275)Atg>Ttg	p.M425L	OCA2_ENST00000353809.5_Missense_Mutation_p.M401L|OCA2_ENST00000382996.2_Missense_Mutation_p.M425L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	425			Missing (in OCA2; mild).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGATGATCATGGCCCACACC	0.577000									Oculocutaneous Albinism				37	2					0	0	0.827153	0	0
ACSM5	54988	broad.mit.edu	37	16	20430642	20430642	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:20430642G>A	ENST00000331849.4	+	4	655	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ACSM5_ENST00000575584.1_Missense_Mutation_p.D170N	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	170					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TATCACCAGTGACTCCCTAGC	0.582000													39	55					0	0	0.804634	0	0
RP3-331H24.5	0	broad.mit.edu	37	6	72113323	72113323	+	RNA	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:72113323G>C	ENST00000602823.1	-	0	267				MIR30A_ENST00000385092.1_RNA																							GTTTACAGTCGCTCACTGTCA	0.483000													10	8					0	0	0.435327	0	0
UNC13C	440279	broad.mit.edu	37	15	54557618	54557618	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:54557618C>A	ENST00000545554.1	+	9	3742	c.3742C>A	c.(3742-3744)Caa>Aaa	p.Q1248K	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1246K|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1248K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1248	C2 1.				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)		TGTTACAGTTCAAGTTGGAAA	0.323000													10	11					0.000442599	0.000455162	0.335167	1	0
GPRASP2	114928	broad.mit.edu	37	X	101970808	101970808	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:101970808G>A	ENST00000543253.1	+	5	1930	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	GPRASP2_ENST00000535209.1_Silent_p.Q337Q|GPRASP2_ENST00000332262.5_Silent_p.Q337Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTATAAGCAGTCCTGGGTTT	0.458000													71	19					0	0	0.870114	0	0
CCDC132	55610	broad.mit.edu	37	7	92902042	92902042	+	Silent	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:92902042A>G	ENST00000544910.1	+	12	928	c.708A>G	c.(706-708)acA>acG	p.T236T	CCDC132_ENST00000305866.5_Silent_p.T266T|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Silent_p.T77T|CCDC132_ENST00000251739.5_Silent_p.T266T	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	266										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGAAAAACACAGGTTTGTT	0.333000													24	53					0	0	0.667858	0	0
TP53	7157	broad.mit.edu	37	17	7578523	7578523	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7578523T>G	ENST00000420246.2	-	5	539	c.407A>C	c.(406-408)cAa>cCa	p.Q136P	TP53_ENST00000455263.2_Missense_Mutation_p.Q136P|TP53_ENST00000269305.4_Missense_Mutation_p.Q136P|TP53_ENST00000413465.2_Missense_Mutation_p.Q136P|TP53_ENST00000359597.4_Missense_Mutation_p.Q136P|TP53_ENST00000445888.2_Missense_Mutation_p.Q136P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q136P(3)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136R(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C3fs*9(1)|p.Q136L(1)|p.Q136_K139delQLAK(1)|p.C135_A138delCQLA(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGGCCAGTTGGCAAAACAT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	39					0	0	0.654019	0	0
TPI1	7167	broad.mit.edu	37	12	6976728	6976728	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:6976728G>C	ENST00000229270.4	+	1	446	c.109G>C	c.(109-111)Gcc>Ccc	p.A37P	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CGGCTCCAGCGCCATGGCGCC	0.642000													10	24					0	0	0.335167	0	0
P2RX3	5024	broad.mit.edu	37	11	57118349	57118349	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57118349C>T	ENST00000263314.2	+	8	853	c.819C>T	c.(817-819)agC>agT	p.S273S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	273					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGAAAAGCAGCGTGTCCCCAG	0.542000													49	68					0	0	0.870114	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184450	69184450	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:69184450G>T	ENST00000563094.1	+	7	783	c.749G>T	c.(748-750)aGt>aTt	p.S250I	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000314423.7_Missense_Mutation_p.S250I|CIRH1A_ENST00000352319.4_Missense_Mutation_p.S250I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	250						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAAGAAGACAGTTTCGTGGTG	0.488000											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	485	93					1.38385e-241	2.17265e-241	0.870114	1	0
CYP26B1	56603	broad.mit.edu	37	2	72361927	72361927	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:72361927T>A	ENST00000001146.2	-	4	1027	c.824A>T	c.(823-825)aAg>aTg	p.K275M	CYP26B1_ENST00000546307.1_Missense_Mutation_p.K200M|CYP26B1_ENST00000412253.1_Missense_Mutation_p.K84M	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	275					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCCGTGCTCCTTGCTGCTCTC	0.622000													19	43					0	0	0.557998	0	0
EFCAB12	90288	broad.mit.edu	37	3	129130039	129130039	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:129130039C>T	ENST00000505956.1	-	5	1159	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	EFCAB12_ENST00000326085.3_Missense_Mutation_p.V333M	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CGCTTGCCCACTTCCTCCATC	0.632000													10	38					0	0	0.361761	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807871	15807871	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:15807871G>A	ENST00000550308.1	+	13	1931	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	CYP4F12_ENST00000324632.9_Silent_p.E517E	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCGGGTGGAGCCCCTGAATG	0.567000													45	81					0	0	0.870114	0	0
ABHD14A-ACY1	100526760	broad.mit.edu	37	3	52011936	52011936	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:52011936T>C	ENST00000463937.1	+	2	195	c.119T>C	c.(118-120)cTg>cCg	p.L40P	ACY1_ENST00000458031.2_5'UTR|ABHD14A_ENST00000273596.3_Missense_Mutation_p.L40P|ABHD14A_ENST00000491470.1_Missense_Mutation_p.L40P|ABHD14B_ENST00000483233.1_Intron																							CTGCTGGGCCTGAGTCTGCTG	0.612000													4	202					0	0	0.217242	0	0
BAI1	575	broad.mit.edu	37	8	143558514	143558514	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:143558514G>A	ENST00000517894.1	+	5	1991	c.1097G>A	c.(1096-1098)tGc>tAc	p.C366Y	BAI1_ENST00000323289.5_Missense_Mutation_p.C366Y			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	366	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGAGCGTGTGCTCCAGCACC	0.716000													11	24					0	0	0.387290	0	0
PROS1	5627	broad.mit.edu	37	3	93615489	93615489	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:93615489A>T	ENST00000394236.3	-	9	1212	c.896T>A	c.(895-897)tTa>tAa	p.L299*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.L168*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	299	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CAAGTAAAGTAATTCATACTT	0.358000													79	242					0	0	0.870114	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507186	74507186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:74507186C>A	ENST00000354431.4	-	7	1620	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.E477*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	477										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGAATTGTCTCTTTATTTTCT	0.338000													84	136					7.63117e-38	1.06655e-37	0.870114	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531709	140531709	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140531709C>A	ENST00000231136.1	+	1	1871	c.1871C>A	c.(1870-1872)aCc>aAc	p.T624N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.T488N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		624	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.687000													55	8					5.98616e-33	8.07874e-33	0.870114	1	0
FRMD1	79981	broad.mit.edu	37	6	168464322	168464322	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:168464322G>T	ENST00000283309.6	-	6	827	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	FRMD1_ENST00000440994.2_Silent_p.R187R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Silent_p.R26R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	255	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCCTCCAGCCGGCAGGCCTCC	0.667000													27	56					2.48779e-11	2.71239e-11	0.693898	1	0
TBCE	6905	broad.mit.edu	37	1	235600733	235600733	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:235600733G>T	ENST00000543662.1	+	13	1319	c.1213G>T	c.(1213-1215)Gcg>Tcg	p.A405S	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.A354S|TBCE_ENST00000406207.1_Missense_Mutation_p.A354S			Q15813	TBCE_HUMAN	tubulin folding cofactor E	354					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGCAGAGACGGCGCGACTACT	0.468000													52	67					1.86277e-20	2.27297e-20	0.870114	1	0
ZC3H14	79882	broad.mit.edu	37	14	89041117	89041117	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:89041117G>T	ENST00000251038.5	+	7	1167	c.942G>T	c.(940-942)gaG>gaT	p.E314D	ZC3H14_ENST00000359301.3_Missense_Mutation_p.E280D|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E314D|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E314D|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E280D|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E314D|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E159D|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E314D	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	314						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATGGAGAAGAGGAGGAAGAAG	0.413000													27	55					2.44723e-14	2.78417e-14	0.681144	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85450746	85450746	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:85450746G>T	ENST00000393217.2	+	8	2236	c.2175G>T	c.(2173-2175)atG>atT	p.M725I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	725										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGATAGCATGACCTGCTGTG	0.358000													236	352					2.42195e-132	3.78982e-132	0.870114	1	0
OR2T6	254879	broad.mit.edu	37	1	248551581	248551581	+	Silent	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248551581A>T	ENST00000355728.2	+	1	672	c.672A>T	c.(670-672)acA>acT	p.T224T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCATCACAGTGCATCAGA	0.498000													75	63					0	0	0.870114	0	0
KLHL7	55975	broad.mit.edu	37	7	23163426	23163426	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:23163426C>G	ENST00000322231.7	+	3	575	c.85C>G	c.(85-87)Cag>Gag	p.Q29E	KLHL7_ENST00000545443.1_Missense_Mutation_p.Q29E|KLHL7_ENST00000322275.5_Missense_Mutation_p.Q51E|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.Q3E|KLHL7_ENST00000410047.1_Missense_Mutation_p.Q29E|KLHL7_ENST00000545771.1_Missense_Mutation_p.Q29E|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.Q51E			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	51						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCATGGTCCAGGAAAGAAA	0.363000													105	12					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179583701	179583701	+	Splice_Site	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179583701C>G	ENST00000589042.1	-	84	24451		c.e84-1		TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGGTGGTTCTAGATATTGC	0.438000													23	17					0	0	0.624587	0	0
PKHD1	5314	broad.mit.edu	37	6	51897833	51897833	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:51897833A>G	ENST00000371117.3	-	29	3634	c.3359T>C	c.(3358-3360)aTa>aCa	p.I1120T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I1120T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1120	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTACCTGCTATATTGCTTAT	0.363000													52	76					0	0	0.870114	0	0
RCAN2	10231	broad.mit.edu	37	6	46191030	46191030	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:46191030A>G	ENST00000371374.1	-	5	771	c.580T>C	c.(580-582)Tat>Cat	p.Y194H	RCAN2_ENST00000330430.6_Missense_Mutation_p.Y148H|RCAN2_ENST00000306764.7_Missense_Mutation_p.Y194H|RCAN2_ENST00000405162.1_Missense_Mutation_p.Y194H	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	148					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGGAGCTCATACTTCTCTCCT	0.502000													84	113					0	0	0.870114	0	0
GANAB	23193	broad.mit.edu	37	11	62398539	62398539	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:62398539G>A	ENST00000346178.4	-	11	1194	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	GANAB_ENST00000356638.3_Silent_p.S371S|GANAB_ENST00000534779.1_Silent_p.S279S|GANAB_ENST00000540933.1_Silent_p.S274S	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	371					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CATCAGAGATGGAGGGCCCCA	0.512000													173	225					0	0	0.870114	0	0
STUB1	10273	broad.mit.edu	37	16	732421	732421	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:732421C>T	ENST00000565677.1	+	7	1235	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	STUB1_ENST00000219548.4_Missense_Mutation_p.P282S|JMJD8_ENST00000454700.1_3'UTR|LA16c-313D11.10_ENST00000567405.2_RNA|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|STUB1_ENST00000564370.1_Missense_Mutation_p.P210S|JMJD8_ENST00000293882.4_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	282					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				ACAGCTCATCCCCAACTTGGC	0.592000													47	64					0	0	0.870114	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363186	22363186	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:22363186C>A	ENST00000263160.3	+	2	636	c.199C>A	c.(199-201)Ctg>Atg	p.L67M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	67					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTGCTTCGGCCTGCCCCGCCG	0.627000													19	21					2.89027e-11	3.14392e-11	0.624587	1	0
ADRBK1	156	broad.mit.edu	37	11	67049153	67049153	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:67049153G>T	ENST00000308595.5	+	10	1070	c.780G>T	c.(778-780)gcG>gcT	p.A260A	ADRBK1_ENST00000526285.1_Silent_p.A260A	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	260	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGTCATACGCGTTCCACACGC	0.672000													47	64					4.17328e-34	5.73066e-34	0.870114	1	0
LRIT1	26103	broad.mit.edu	37	10	85992071	85992071	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:85992071A>G	ENST00000372105.3	-	4	1505	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	495	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GACACACGCCACATACTTGGT	0.567000													14	29					0	0	0.457914	0	0
OR4N4	283694	broad.mit.edu	37	15	22382664	22382664	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22382664C>A	ENST00000328795.4	+	1	283	c.192C>A	c.(190-192)ggC>ggA	p.G64G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	64					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)		TATTTCTGGGCAACTTGGCCT	0.463000													79	995					1.7666e-45	2.56811e-45	0.870114	1	0
OR4M2	390538	broad.mit.edu	37	15	22368976	22368976	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22368976C>T	ENST00000332663.2	+	1	499	c.401C>T	c.(400-402)aCc>aTc	p.T134I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACTATGCTACCATCATGAAT	0.507000													96	889					0	0	0.870114	0	0
MYO1D	4642	broad.mit.edu	37	17	31107692	31107692	+	Translation_Start_Site	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:31107692C>T	ENST00000394649.4	-	0	485				MYO1D_ENST00000579584.1_Missense_Mutation_p.R69H|MYO1D_ENST00000318217.5_Missense_Mutation_p.R69H|MYO1D_ENST00000583621.1_Missense_Mutation_p.R69H			O94832	MYO1D_HUMAN	myosin ID							myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATACAGCTCACGGCCTTTATA	0.448000													67	73					0	0	0.870114	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136948	108136948	+	Missense_Mutation	SNP	C	C	G	rs71823325		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:108136948C>G	ENST00000374720.3	+	13	1811	c.1564C>G	c.(1564-1566)Ctg>Gtg	p.L522V	SLC44A1_ENST00000374724.1_Missense_Mutation_p.L522V|SLC44A1_ENST00000343170.7_Missense_Mutation_p.L314V|SLC44A1_ENST00000374723.1_Missense_Mutation_p.L522V	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	522						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTTTGTCATTCTGGTGGAGAA	0.418000													100	135					0	0	0.870114	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709707	22709707	+	RNA	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22709707C>A	ENST00000314246.8	-	0	1077																											CCTTCTTCAACGAGCAAACCT	0.547000													49	284					9.53695e-23	1.1852e-22	0.870114	1	0
OR5F1	338674	broad.mit.edu	37	11	55761243	55761243	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55761243G>A	ENST00000278409.1	-	1	858	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAGATCAGAGGATTCAACATG	0.438000													25	52					0	0	0.654019	0	0
SCML2	10389	broad.mit.edu	37	X	18338540	18338540	+	Splice_Site	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:18338540C>G	ENST00000251900.4	-	6	557	c.397_splice	c.e6-1	p.G133_splice		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	133					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CATCTGGTACCCTGTTTTATA	0.353000													56	10					0	0	0.870114	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740679	94740679	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:94740679C>A	ENST00000289495.5	+	2	1720	c.1504C>A	c.(1504-1506)Ctt>Att	p.L502I	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L502I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L502I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L502I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L502I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L502I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	502	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGCTGGAACTTTTCCCAGT	0.388000										HNSCC(28;0.073)			26	51					7.4402e-23	9.29532e-23	0.667858	1	0
CDH9	1007	broad.mit.edu	37	5	26885967	26885967	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:26885967T>C	ENST00000231021.4	-	11	1810	c.1638A>G	c.(1636-1638)acA>acG	p.T546T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	546	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATTCCTGCTGTATTATCTG	0.308000													37	78					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179553841	179553841	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179553841G>C	ENST00000589042.1	-	125	32258	c.32034C>G	c.(32032-32034)ccC>ccG	p.P10678P	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P9434P|TTN_ENST00000591111.1_Silent_p.P10361P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10361	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTGGGACGGGTTTCTTAG	0.433000													90	69					0	0	0.870114	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493607	62493607	+	Silent	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:62493607C>G	ENST00000369916.3	+	1	1042	c.714C>G	c.(712-714)ccC>ccG	p.P238P		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	238							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						ACTTCCCGCCCGCGCACCTGG	0.687000													10	19					0	0	0.500413	0	0
ADORA3	140	broad.mit.edu	37	1	112028408	112028408	+	Silent	SNP	T	T	G	rs145936359		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:112028408T>G	ENST00000369716.4	-	5	1060	c.927A>C	c.(925-927)gtA>gtC	p.V309V	ADORA3_ENST00000369717.4_Silent_p.V228V	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGACTGATTACAGAGATGA	0.433000													57	68					0	0	0.870114	0	0
NPHP3	27031	broad.mit.edu	37	3	132408077	132408077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:132408077C>T	ENST00000337331.5	-	20	2810	c.2724G>A	c.(2722-2724)tgG>tgA	p.W908*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	908					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAACAAACTGCCAATAACTCA	0.383000													76	166					0	0	0.870114	0	0
MYH15	22989	broad.mit.edu	37	3	108189618	108189618	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108189618C>T	ENST00000273353.3	-	14	1426	c.1370G>A	c.(1369-1371)aGg>aAg	p.R457K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	457	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATCCAGGGCCCTGTTGATCCG	0.458000													27	53					0	0	0.693898	0	0
CADM2	253559	broad.mit.edu	37	3	85851229	85851229	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:85851229G>T	ENST00000383699.3	+	3	748	c.121G>T	c.(121-123)Gta>Tta	p.V41L	CADM2_ENST00000405615.2_Missense_Mutation_p.V34L|CADM2_ENST00000407528.2_Missense_Mutation_p.V32L|CADM2-AS2_ENST00000467225.1_RNA	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	32	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AACACAGAATGTAACCGTTGT	0.403000													53	10					1.4709e-25	1.89288e-25	0.870114	1	0
C16orf46	123775	broad.mit.edu	37	16	81094970	81094970	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:81094970C>T	ENST00000378611.4	-	3	1099	c.984G>A	c.(982-984)caG>caA	p.Q328Q	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Silent_p.Q328Q	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	328										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTCCCCGTTTCTGCAGAAGCT	0.542000													72	120					0	0	0.870114	0	0
RBX1	9978	broad.mit.edu	37	22	41347432	41347432	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:41347432G>T	ENST00000216225.8	+	1	70	c.30G>T	c.(28-30)ccG>ccT	p.P10P	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	10					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TGGATACCCCGAGCGGCACCA	0.637000													11	19					0.0135373	0.0137712	0.411799	1	0
SFXN2	118980	broad.mit.edu	37	10	104486494	104486494	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:104486494G>T	ENST00000369893.4	+	2	268	c.101G>T	c.(100-102)cGc>cTc	p.R34L	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	34					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	p.R34H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ACGGACCCCCGCACTGTCTTT	0.587000													47	87					1.19451e-25	1.54565e-25	0.870114	1	0
PTGER2	5732	broad.mit.edu	37	14	52781369	52781369	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:52781369G>A	ENST00000245457.5	+	1	257	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	35						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GTTCTCGGCCGGGGTGCTGGG	0.682000													25	8					0	0	0.681144	0	0
ISYNA1	51477	broad.mit.edu	37	19	18545774	18545774	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:18545774G>A	ENST00000545187.1	-	8	1462	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ISYNA1_ENST00000578963.1_Silent_p.T414T|ISYNA1_ENST00000338128.7_Silent_p.T542T|ISYNA1_ENST00000317018.6_Silent_p.T340T|ISYNA1_ENST00000457269.3_Silent_p.T488T			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	542				S -> G (in Ref. 7; AAH66902).	inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGGCATCACCGGTGCAGCCAT	0.647000													4	142					0	0	0.184627	0	0
VCAM1	7412	broad.mit.edu	37	1	101197026	101197026	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:101197026G>C	ENST00000294728.2	+	6	1578	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q	VCAM1_ENST00000370119.4_Missense_Mutation_p.E431Q|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.E401Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	493	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGATGACATGGAATTCGAACC	0.373000													37	70					0	0	0.819951	0	0
OR4A16	81327	broad.mit.edu	37	11	55110931	55110931	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55110931T>A	ENST00000314721.2	+	1	305	c.255T>A	c.(253-255)tgT>tgA	p.C85*		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C85C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTTACTCTGTGATAAAATCG	0.448000													138	213					0	0	0.870114	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530685	80530685	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:80530685C>A	ENST00000295057.3	-	2	916	c.260G>T	c.(259-261)gGg>gTg	p.G87V	LRRTM1_ENST00000409148.1_Missense_Mutation_p.G87V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	87						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTGCATTAACCCCGTGAACTG	0.622000										HNSCC(69;0.2)			66	112					9.07738e-34	1.23926e-33	0.870114	1	0
NEURL4	84461	broad.mit.edu	37	17	7230998	7230998	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7230998C>T	ENST00000399464.2	-	2	503	c.488G>A	c.(487-489)cGc>cAc	p.R163H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R163H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R163H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAACTGTGCGCTCCACGCC	0.642000													65	95					0	0	0.870114	0	0
OPCML	4978	broad.mit.edu	37	11	132527042	132527042	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:132527042T>A	ENST00000331898.7	-	2	918	c.340A>T	c.(340-342)Acc>Tcc	p.T114S	OPCML_ENST00000541867.1_Missense_Mutation_p.T114S|OPCML_ENST00000374778.4_Missense_Mutation_p.T73S|OPCML_ENST00000524381.1_Missense_Mutation_p.T107S|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	114	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACAGAGCAGGTGTACGGACCT	0.507000													65	30					0	0	0.870114	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209242	140209242	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140209242G>T	ENST00000529310.1	+	1	1680	c.1566G>T	c.(1564-1566)ccG>ccT	p.P522P	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682000													139	26					9.62737e-85	1.47224e-84	0.870114	1	0
TBC1D15	64786	broad.mit.edu	37	12	72278758	72278758	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:72278758A>G	ENST00000550746.1	+	5	575	c.511A>G	c.(511-513)Aaa>Gaa	p.K171E	TBC1D15_ENST00000319106.8_Missense_Mutation_p.K179E|TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000485960.2_Missense_Mutation_p.K171E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	171							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAGATAGCAAACTACTGAT	0.358000													51	96					0	0	0.870114	0	0
ACADM	34	broad.mit.edu	37	1	76211507	76211507	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76211507C>T	ENST00000370841.4	+	8	1053	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	ACADM_ENST00000370834.5_Missense_Mutation_p.R239C|ACADM_ENST00000541113.1_Missense_Mutation_p.R170C|ACADM_ENST00000543667.1_Missense_Mutation_p.R17C|ACADM_ENST00000420607.2_Missense_Mutation_p.R210C	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	206			R -> L (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TTTATTGGCACGTTCTGATCC	0.383000													43	81					0	0	0.870114	0	0
OR4D6	219983	broad.mit.edu	37	11	59224737	59224737	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:59224737T>A	ENST00000300127.2	+	1	327	c.304T>A	c.(304-306)Ttt>Att	p.F102I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	102			F -> S (in dbSNP:rs17153770).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGCACAGATCTTTTTCTTCCA	0.463000													116	155					0	0	0.870114	0	0
ZNF845	91664	broad.mit.edu	37	19	53856114	53856114	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:53856114G>T	ENST00000458035.1	+	4	2303	c.2186G>T	c.(2185-2187)aGt>aTt	p.S729I	ZNF845_ENST00000595091.1_Missense_Mutation_p.S729I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	729				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGGCCTTCAGTCAGAAGTCA	0.418000													55	102					5.39261e-20	6.54619e-20	0.870114	1	0
GOLGA3	2802	broad.mit.edu	37	12	133363016	133363016	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:133363016T>C	ENST00000204726.3	-	15	3590	c.3032A>G	c.(3031-3033)cAg>cGg	p.Q1011R	GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q1011R|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q1011R|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q1011R|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q1011R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1011					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAGGGCCTCCTGCAGGCGGCG	0.652000													10	28					0	0	0.361761	0	0
GRB14	2888	broad.mit.edu	37	2	165381587	165381587	+	Splice_Site	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:165381587T>C	ENST00000263915.3	-	5	1143	c.603_splice	c.e5-1	p.Y202_splice	GRB14_ENST00000543549.1_Splice_Site_p.Y115_splice	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	202					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGAAAAAAATACTGTCAAAA	0.284000													42	15					0	0	0.870114	0	0
KIAA1217	56243	broad.mit.edu	37	10	24802317	24802317	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:24802317A>T	ENST00000376451.2	+	5	1440	c.1180A>T	c.(1180-1182)Aga>Tga	p.R394*	KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.R711*|KIAA1217_ENST00000430453.2_Nonsense_Mutation_p.R597*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.R676*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.R394*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.R676*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.R394*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.R631*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.R394*			Q5T5P2	SKT_HUMAN	KIAA1217	711					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGCAAGAGAGACAAAAATA	0.473000											OREG0020076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	53					0	0	0.812448	0	0
DKK2	27123	broad.mit.edu	37	4	107845325	107845325	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:107845325C>A	ENST00000285311.3	-	4	1271	c.566G>T	c.(565-567)tGc>tTc	p.C189F	DKK2_ENST00000513208.1_Missense_Mutation_p.C89F|DKK2_ENST00000510463.1_Missense_Mutation_p.C143F	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	189	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCTTCAATGCAGTCTGATGA	0.453000													51	76					4.00472e-15	4.60054e-15	0.870114	1	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:45396681G>T	ENST00000303230.4	-	4	1200	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						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						AGGTGGCCCCGACGATCATGC	0.507000													43	63					1.32136e-16	1.54816e-16	0.840704	1	0
PRR23C	389152	broad.mit.edu	37	3	138763109	138763109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:138763109C>T	ENST00000413199.1	-	1	625	c.354G>A	c.(352-354)tgG>tgA	p.W118*	PRR23C_ENST00000502927.2_Nonsense_Mutation_p.W118*|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	118										breast(2)|lung(7)|skin(2)	11						GGCCGGCAGACCAGTCGCCCT	0.637000													6	24					0	0	0.217242	0	0
TTC5	91875	broad.mit.edu	37	14	20768960	20768960	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:20768960C>A	ENST00000258821.3	-	3	258	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	68					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGAACTTGTGCCTTGCCCTGG	0.438000													236	181					4.9081e-105	7.5794e-105	0.870114	1	0
ATP2B2	491	broad.mit.edu	37	3	10428194	10428194	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:10428194C>A	ENST00000360273.2	-	7	1348	c.910G>T	c.(910-912)Gtg>Ttg	p.V304L	ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V304L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V304L|ATP2B2_ENST00000383800.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	304					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCTTCTTCACACCTGTGTGA	0.507000													50	23					1.78197e-24	2.2562e-24	0.870114	1	0
ZNF98	148198	broad.mit.edu	37	19	22574982	22574982	+	Missense_Mutation	SNP	C	C	T	rs74170714		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22574982C>T	ENST00000357774.5	-	4	1176	c.1055G>A	c.(1054-1056)tGt>tAt	p.C352Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATTCTTCACATTTGTAGAA	0.393000													14	38					0	0	0.608945	0	0
HLTF	6596	broad.mit.edu	37	3	148792018	148792018	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:148792018C>A	ENST00000310053.5	-	4	706	c.513G>T	c.(511-513)ttG>ttT	p.L171F	HLTF_ENST00000392912.2_Missense_Mutation_p.L171F|HLTF_ENST00000465259.1_Missense_Mutation_p.L171F|HLTF_ENST00000494055.1_Missense_Mutation_p.L171F	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	171					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCAGGACCCAATTTAAATC	0.338000													21	100					4.35082e-09	4.67862e-09	0.592651	1	0
DKK2	27123	broad.mit.edu	37	4	107845853	107845853	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:107845853G>A	ENST00000285311.3	-	3	1083	c.378C>T	c.(376-378)atC>atT	p.I126I	DKK2_ENST00000513208.1_Silent_p.I26I|DKK2_ENST00000510463.1_Silent_p.I80I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	126	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTGGGATACAGATGCCTGGAG	0.403000													81	102					0	0	0.870114	0	0
VPS37C	55048	broad.mit.edu	37	11	60906239	60906239	+	Silent	SNP	C	C	A	rs144092595	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:60906239C>A	ENST00000301765.5	-	2	295	c.63G>T	c.(61-63)gcG>gcT	p.A21A		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	21					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCTGGTCAATCGCCTCCGAGT	0.552000													54	104					2.44813e-32	3.2851e-32	0.870114	1	0
KIF20B	9585	broad.mit.edu	37	10	91479299	91479299	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:91479299A>C	ENST00000416354.1	+	13	1630	c.1558A>C	c.(1558-1560)Att>Ctt	p.I520L	KIF20B_ENST00000371728.3_Missense_Mutation_p.I520L|KIF20B_ENST00000260753.4_Missense_Mutation_p.I520L|KIF20B_ENST00000394289.2_Missense_Mutation_p.I520L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	520					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGAGCCACCATTTCATGGGA	0.343000													21	35					0	0	0.608945	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376287	75376287	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75376287C>A	ENST00000555647.1	-	8	1516	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.C410F|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.C379F|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.C410F			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	410	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGGTCCCGGCACAGCACCCC	0.682000													4	172					0.184627	0.185415	0.184627	1	0
RYR2	6262	broad.mit.edu	37	1	237947941	237947941	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:237947941G>A	ENST00000366574.2	+	90	13246	c.12929G>A	c.(12928-12930)tGc>tAc	p.C4310Y	RYR2_ENST00000360064.6_Missense_Mutation_p.C4316Y|RYR2_ENST00000542537.1_Missense_Mutation_p.C4294Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4310					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGCATCATTTGCAGCCTGCTG	0.498000													28	53					0	0	0.740014	0	0
ALB	213	broad.mit.edu	37	4	74285324	74285324	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:74285324G>T	ENST00000295897.4	+	13	1842	c.1753G>T	c.(1753-1755)Gct>Tct	p.A585S	ALB_ENST00000415165.2_Missense_Mutation_p.A393S|ALB_ENST00000503124.1_Missense_Mutation_p.A435S|ALB_ENST00000509063.1_Missense_Mutation_p.A585S|ALB_ENST00000401494.3_Missense_Mutation_p.A470S|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	585	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTGCTGCAAGGCTGACGATAA	0.438000													66	133					7.33394e-39	1.03422e-38	0.870114	1	0
ANK2	287	broad.mit.edu	37	4	114277866	114277866	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:114277866A>T	ENST00000357077.4	+	38	8145	c.8092A>T	c.(8092-8094)Agc>Tgc	p.S2698C	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2665C|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2665					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTTCCATCAAGCATGGACTC	0.443000													60	91					0	0	0.870114	0	0
DBH	1621	broad.mit.edu	37	9	136505046	136505046	+	Missense_Mutation	SNP	C	C	A	rs78929918		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:136505046C>A	ENST00000393056.2	+	2	430	c.418C>A	c.(418-420)Cca>Aca	p.P140T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	140	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCAGAGGACCCCAGAAGGCCT	0.617000													26	8					4.87955e-14	5.52469e-14	0.693898	1	0
MFN1	55669	broad.mit.edu	37	3	179095131	179095131	+	Splice_Site	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:179095131G>A	ENST00000471841.1	+	12	1350		c.e12-1		MFN1_ENST00000280653.7_Splice_Site|MFN1_ENST00000263969.5_Splice_Site	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATATTTTCAGGTTTCATGTG	0.239000													44	101					0	0	0.859065	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745800	77745800	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:77745800A>G	ENST00000409088.3	-	3	1609	c.1195T>C	c.(1195-1197)Ttt>Ctt	p.F399L	LRRTM4_ENST00000409093.1_Missense_Mutation_p.F399L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.F399L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.F400L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.F400L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	399						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTGTTTCAAAGGTGGATTGG	0.493000													37	70					0	0	0.796494	0	0
PPP4R1	9989	broad.mit.edu	37	18	9563520	9563520	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:9563520T>A	ENST00000400556.3	-	12	1675	c.1602A>T	c.(1600-1602)ctA>ctT	p.L534L	PPP4R1_ENST00000400555.3_Silent_p.L517L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	534					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TGGAAGCACGTAGTGCAGCGG	0.403000													47	163					0	0	0.870114	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079416	100079416	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:100079416A>C	ENST00000375202.2	+	23	2349	c.997A>C	c.(997-999)Acc>Ccc	p.T333P	CCDC180_ENST00000529487.1_Missense_Mutation_p.T333P|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.T472P|CCDC180_ENST00000395220.1_Missense_Mutation_p.T472P|CCDC180_ENST00000411667.2_Missense_Mutation_p.T330P|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GATGGAGTCCACCCTGCAGCA	0.602000													10	124					0	0	0.667858	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780133	22780133	+	RNA	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22780133G>A	ENST00000600260.1	+	0	211					NR_033899.1																						CTACAGGAGTGAAAAAGAAAA	0.488000													39	56					0	0	0.840704	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993927	140993927	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:140993927T>A	ENST00000285879.4	+	4	1023	c.737T>A	c.(736-738)cTg>cAg	p.L246Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	246							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTACTGAGTCTTTTC	0.498000										HNSCC(15;0.026)			207	38					0	0	0.870114	0	0
SLC35F5	80255	broad.mit.edu	37	2	114492205	114492205	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:114492205C>A	ENST00000245680.2	-	9	1291	c.878G>T	c.(877-879)gGa>gTa	p.G293V		NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	293	DUF6.				transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAATCTATCTCCACTGTTACT	0.303000													51	43					3.28156e-27	4.29337e-27	0.870114	1	0
SMCHD1	23347	broad.mit.edu	37	18	2751280	2751280	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:2751280T>C	ENST00000320876.6	+	33	4508	c.4170T>C	c.(4168-4170)ttT>ttC	p.F1390F	SMCHD1_ENST00000261598.8_Silent_p.F1390F|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1390					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGACAGATTTTATGATTAGTG	0.303000													17	334					0	0	0.520397	0	0
DPYD	1806	broad.mit.edu	37	1	97658799	97658799	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:97658799G>A	ENST00000370192.3	-	20	2548	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	816					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GAATGGCACTGCATACCTAGA	0.388000													14	26					0	0	0.435327	0	0
DIP2A	23181	broad.mit.edu	37	21	47910617	47910617	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:47910617G>A	ENST00000318711.7	+	3	451	c.268G>A	c.(268-270)Gag>Aag	p.E90K	DIP2A_ENST00000466639.1_Missense_Mutation_p.E90K|DIP2A_ENST00000435722.3_Missense_Mutation_p.E90K|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000417564.2_Missense_Mutation_p.E90K|DIP2A_ENST00000400274.1_Missense_Mutation_p.E90K|DIP2A_ENST00000457905.3_Missense_Mutation_p.E90K	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	90					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCGAGGGATGAGCGCTTCCG	0.592000													6	7					0	0	0.217242	0	0
ENPEP	2028	broad.mit.edu	37	4	111431455	111431455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:111431455G>T	ENST00000265162.5	+	6	1591	c.1249G>T	c.(1249-1251)Gga>Tga	p.G417*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCTAAATGAAGGATTTGCTTC	0.373000													54	80					1.1362e-29	1.49483e-29	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	215931940	215931940	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:215931940G>C	ENST00000366943.2	-	58	11772	c.11386C>G	c.(11386-11388)Cca>Gca	p.P3796A	USH2A_ENST00000307340.3_Missense_Mutation_p.P3796A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3796	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTTACCTGGTGGTATCCAA	0.299000										HNSCC(13;0.011)			60	92					0	0	0.870114	0	0
GALC	2581	broad.mit.edu	37	14	88434807	88434807	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:88434807T>C	ENST00000261304.2	-	8	886	c.780A>G	c.(778-780)gcA>gcG	p.A260A	GALC_ENST00000544807.2_Silent_p.A204A|GALC_ENST00000393569.2_Silent_p.A234A|GALC_ENST00000393568.4_Silent_p.A237A	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	260					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGCATCTTTTGCTGAATGGG	0.413000													73	94					0	0	0.870114	0	0
TREML2	79865	broad.mit.edu	37	6	41162312	41162312	+	Silent	SNP	G	G	A	rs141822677	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:41162312G>A	ENST00000483722.1	-	3	821	c.636C>T	c.(634-636)acC>acT	p.T212T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	212					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.T271T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGAGACGCGGTCACTGTCT	0.627000													24	33					0	0	0.667858	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709630	22709630	+	RNA	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22709630A>G	ENST00000314246.8	-	0	1154																											CATCTTACCCATCTGGTTTTT	0.547000													80	422					0	0	0.870114	0	0
ATP7A	538	broad.mit.edu	37	X	77294477	77294477	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:77294477G>T	ENST00000341514.6	+	18	3810	c.3655G>T	c.(3655-3657)Gat>Tat	p.D1219Y	ATP7A_ENST00000350425.4_Missense_Mutation_p.D222Y|ATP7A_ENST00000343533.5_Missense_Mutation_p.D1141Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1219					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTAGCAGTTGATGGTAAGGT	0.323000													62	18					2.34445e-45	3.39765e-45	0.870114	1	0
COL4A5	1287	broad.mit.edu	37	X	107930715	107930715	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:107930715C>T	ENST00000328300.6	+	49	4563	c.4319C>T	c.(4318-4320)aCc>aTc	p.T1440I	COL4A5_ENST00000361603.2_Missense_Mutation_p.T1434I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1434	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAATAGGTACCCGTGGTTTG	0.443000									Alport syndrome with Diffuse Leiomyomatosis				99	25					0	0	0.870114	0	0
THADA	63892	broad.mit.edu	37	2	43801749	43801751	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:43801749_43801751delCAT	ENST00000403856.1	-	12	1600_1602	c.1453_1455delATG	c.(1453-1455)del	p.M485del	THADA_ENST00000405975.2_In_Frame_Del_p.M485del|THADA_ENST00000404790.1_In_Frame_Del_p.M485del|THADA_ENST00000405006.4_In_Frame_Del_p.M485del|THADA_ENST00000330266.7_In_Frame_Del_p.M195del|THADA_ENST00000402360.2_In_Frame_Del_p.M485del|THADA_ENST00000415080.2_In_Frame_Del_p.M195del			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	485							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTGGTCTCCCATCACCTCTAAG	0.394													8	189	---	---	---	---					
SPHKAP	80309	broad.mit.edu	37	2	228883596	228883596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:228883596delG	ENST00000392056.3	-	7	2020	c.1974delC	c.(1972-1974)tgfs	p.C658fs	SPHKAP_ENST00000344657.5_Frame_Shift_Del_p.C658fs	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	658						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTTTCTGAGCACAGGGTCT	0.433													107	51	---	---	---	---					
ULK4	54986	broad.mit.edu	37	3	41860985	41860985	+	Frame_Shift_Del	DEL	T	T	-	rs76318575		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:41860985delT	ENST00000301831.4	-	19	2240	c.1778delA	c.(1777-1779)agfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593							ATP binding|protein serine/threonine kinase activity	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTAGGGTTCTTTTTTTTTTC	0.448													7	92	---	---	---	---					
GPR128	84873	broad.mit.edu	37	3	100349575	100349576	+	Frame_Shift_Ins	INS	-	-	TT	rs146877111		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:100349575_100349576insTT	ENST00000273352.3	+	3	524_525	c.256_257insTT	c.(256-258)gggfs	p.G86fs		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	86					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAGTACCTATATGGGTTTTACT	0.317													33	120	---	---	---	---					
TRAT1	50852	broad.mit.edu	37	3	108572466	108572466	+	Splice_Site	DEL	G	G	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108572466delG	ENST00000295756.6	+	6	533		c.e6-1		TRAT1_ENST00000426646.1_Splice_Site	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1						cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CTTTCTTTTAGGCAACCAATG	0.403													50	215	---	---	---	---					
PLXND1	23129	broad.mit.edu	37	3	129293227	129293227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:129293227delC	ENST00000393239.1	-	12	2815	c.2637delG	c.(2635-2637)ggfs	p.G879fs	PLXND1_ENST00000324093.4_Frame_Shift_Del_p.G879fs			Q9Y4D7	PLXD1_HUMAN	plexin D1	879					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGCAGAGGCCCCCGCAGGC	0.687													10	25	---	---	---	---					
RP11-644C3.1	0	broad.mit.edu	37	3	176487516	176487517	+	RNA	DEL	AG	AG	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:176487516_176487517delAG	ENST00000428516.1	-	0	198																											agggaaagaaagagagagagga	0.490													2	4	---	---	---	---					
SNORD46	94161	broad.mit.edu	37	6	24166597	24166597	+	RNA	DEL	A	A	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:24166597delA	ENST00000516021.1	+	0	97																											AGTTATAGTGACCGTGCTAAA	0.493													7	2	---	---	---	---					
GRIK4	2900	broad.mit.edu	37	11	120690619	120690620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:120690619_120690620insA	ENST00000527524.2	+	6	788_789	c.501_502insA	c.(499-504)gcaagcfs	p.S168fs	GRIK4_ENST00000438375.2_Frame_Shift_Ins_p.S168fs			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	168					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)	TCATCTGTGCCAAAGCAGAATG	0.569													111	70	---	---	---	---					
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	RNA	INS	-	-	TCTTCCTCCTCC	rs71045240		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1																						caccatcaccttcttcctcccc	0.545													2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445506	49445506	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:49445506delA	ENST00000301067.7	-	10	1959	c.1960delT	c.(1960-1962)ccfs	p.S654fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCAGGGGGGATAGGCGCGAT	0.637													34	49	---	---	---	---					
SUPT20H	55578	broad.mit.edu	37	13	37619383	37619383	+	Splice_Site	DEL	C	C	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:37619383delC	ENST00000360252.4	-	6	543		c.e6+1		SUPT20H_ENST00000350612.6_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000542180.1_Splice_Site	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GAGGGTCTTACCTGATCCGTT	0.413													22	41	---	---	---	---					
RP11-1082A3.1	0	broad.mit.edu	37	14	98965146	98965147	+	RNA	INS	-	-	AGGAAGGAAGGAAAGAAGGAAGGAAGGA	rs58343490		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:98965146_98965147insAGGAAGGAAGGAAAGAAGGAAGGAAGGA	ENST00000554515.1	+	0	107																											AAGATgaaaggaggaaggaagg	0.465													2	4	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													8	404	---	---	---	---					
AC142381.1	0	broad.mit.edu	37	16	32063351	32063352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:32063351_32063352insT	ENST00000426099.1	+	1	41_42	c.41_42insT	c.(40-42)cggfs	p.R14fs	RP11-1166P10.6_ENST00000566806.1_RNA																lung(1)	1						TTGGTACAGCCTGGGGGGTCCC	0.559													39	106	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G	rs56275308		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7579470_7579471insG	ENST00000420246.2	-	4	348_349	c.216_217insC	c.(214-219)cctggcfs	p.G73fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCAG	0.604		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			96	135	---	---	---	---					
SNORA70	26778	broad.mit.edu	37	18	3025533	3025533	+	RNA	DEL	A	A	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:3025533delA	ENST00000516449.1	-	0	31																											ACAACTTCTTAAAAAAAAAAt	0.473													7	244	---	---	---	---					
LILRB2	10288	broad.mit.edu	37	19	54782747	54782747	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54782747delC	ENST00000391748.1	-	6	1002	c.875delG	c.(874-876)gcfs	p.G292fs	LILRB2_ENST00000434421.1_Frame_Shift_Del_p.G176fs|LILRB2_ENST00000314446.5_Frame_Shift_Del_p.G292fs|LILRB2_ENST00000391746.1_Frame_Shift_Del_p.G292fs|LILRB2_ENST00000391749.4_Frame_Shift_Del_p.G292fs	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	292	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGTACTGGCCCCCGTAGGA	0.677													47	50	---	---	---	---					
SLC24A3	57419	broad.mit.edu	37	20	19566110	19566110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:19566110delG	ENST00000328041.6	+	6	731	c.534delG	c.(532-534)gtfs	p.V178fs		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	178						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGGCGATGTGGGAGTTGGCA	0.547													21	174	---	---	---	---