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
IGKV2D-24	28885	broad.mit.edu	37	2	90044314	90044314	+	RNA	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:90044314C>A	ENST00000462693.1	+	0	265																											GGTTTCTAACCGGTTCTCTGG	0.502000													31	206					5.60225e-13	7.42356e-13	1	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517103	158517103	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:158517103C>T	ENST00000302617.3	-	1	792	c.793G>A	c.(793-795)Gcc>Acc	p.A265T		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTGGGACGGGCATAGGTGAAA	0.488000													15	171					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37796255	37796255	+	Missense_Mutation	SNP	A	A	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:37796255A>T	ENST00000307599.4	-	2	359	c.260T>A	c.(259-261)cTc>cAc	p.L87H		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	87					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CTTTCCAAAGAGGAGTGCTAG	0.527000													4	13					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417307	100417307	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:100417307C>G	ENST00000358173.3	-	6	1637	c.1169G>C	c.(1168-1170)tGg>tCg	p.W390S	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.W390S	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	390	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACCACCACCCAGGGCTCCAC	0.657000													11	38					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602485	138602485	+	Silent	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:138602485T>A	ENST00000440172.1	-	2	1935	c.1887A>T	c.(1885-1887)acA>acT	p.T629T	KIAA1549_ENST00000242365.4_Silent_p.T579T|KIAA1549_ENST00000422774.1_Silent_p.T629T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	629	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCAGCGGGGGTGTTGAGAAAA	0.507000			O	BRAF	pilocytic astrocytoma								3	10					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	rs111483466		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	65	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTATAATCGCAAACGTGAA	0.418000													13	61					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149671615	149671615	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:149671615G>T	ENST00000370401.2	+	6	2422	c.2112G>T	c.(2110-2112)ccG>ccT	p.P704P	MAMLD1_ENST00000455522.2_Silent_p.P144P|MAMLD1_ENST00000426613.2_Silent_p.P679P|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Silent_p.P704P			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	704					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCCCCCGTCCTGCCAGG	0.622000													54	169					9.57592e-29	1.41442e-28	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298876	125298876	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:125298876C>A	ENST00000538699.1	-	2	1112	c.1032G>T	c.(1030-1032)ctG>ctT	p.L344L	DCAF12L2_ENST00000360028.2_Silent_p.L344L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	344										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCGAGAGCACAGGGGCCGGA	0.617000													24	91					1.22574e-08	1.50071e-08	1	1	0
CSN3	1448	broad.mit.edu	37	4	71115169	71115169	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:71115169C>G	ENST00000304954.3	+	4	628	c.542C>G	c.(541-543)aCg>aGg	p.T181R		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	181				TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).		extracellular region	protein binding	p.T181M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACTCCACCTACGGCATAAAAA	0.413000													10	31					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673896	20673896	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:20673896C>G	ENST00000525748.1	+	15	2405	c.2132C>G	c.(2131-2133)cCt>cGt	p.P711R	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	711					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P711N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TACCGCTATCCTAACTGGTCC	0.483000													13	77					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21461315	21461315	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr10:21461315T>A	ENST00000417816.2	-	2	514	c.161A>T	c.(160-162)aAt>aTt	p.N54I	NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	716				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TACTTACGCATTACAATAGGG	0.458000													6	17					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32388595	32388595	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:32388595C>A	ENST00000265069.8	-	13	2430	c.2328G>T	c.(2326-2328)aaG>aaT	p.K776N		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	776					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTCCCTCTTTCTTATCATCTC	0.333000													6	54					3.59834e-05	4.02314e-05	1	1	0
GAPVD1	26130	broad.mit.edu	37	9	128074791	128074791	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:128074791C>T	ENST00000470056.1	+	7	1662	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	GAPVD1_ENST00000394104.2_Missense_Mutation_p.S501L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S501L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S501L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S501L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S501L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S501L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S501L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	501					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CATGAAGGATCATCTCAAGAA	0.408000													9	59					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55564662	55564662	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:55564662C>T	ENST00000288135.5	+	3	647	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	184	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGGCTCTGTCTGCATTGTTC	0.532000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				13	63					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154720	22154720	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:22154720C>A	ENST00000397126.4	-	4	3264	c.3116G>T	c.(3115-3117)aGc>aTc	p.S1039I	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)				TGAGGGCCAGCTGAAGGCTTT	0.443000													27	102					9.39395e-14	1.26035e-13	1	1	0
SUGP2	10147	broad.mit.edu	37	19	19120951	19120951	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:19120951C>A	ENST00000601879.1	-	5	2348	c.2051G>T	c.(2050-2052)cGt>cTt	p.R684L	SUGP2_ENST00000337018.6_Missense_Mutation_p.R684L|SUGP2_ENST00000456085.2_Missense_Mutation_p.R453L|SUGP2_ENST00000452918.2_Missense_Mutation_p.R684L|SUGP2_ENST00000600377.1_Missense_Mutation_p.R698L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	684					mRNA processing|RNA splicing	nucleus	RNA binding	p.R684P(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCTTGAGCACGGAGGAGCCC	0.667000													7	77					0.000157383	0.000171788	1	1	0
CHEK1	1111	broad.mit.edu	37	11	125525243	125525243	+	Splice_Site	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:125525243G>T	ENST00000428830.2	+	13	1517		c.e13+1		CHEK1_ENST00000278916.3_3'UTR|CHEK1_ENST00000438015.1_3'UTR|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_3'UTR|CHEK1_ENST00000534070.1_3'UTR|CHEK1_ENST00000524737.1_Splice_Site|CHEK1_ENST00000427383.2_3'UTR	NM_001114121.2	NP_001107593.1	O14757	CHK1_HUMAN	checkpoint kinase 1						cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGGAATCCTGGTGAATATAGT	0.438000								Other conserved DNA damage response genes					3	18					0.004672	0.00485285	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46766489	46766489	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:46766489G>T	ENST00000394809.4	-	4	1208	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	MYLK3_ENST00000536476.1_Missense_Mutation_p.P24T	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	365					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCAGCTGCTGGAGCCTCTGTG	0.652000													5	22					0.000602214	0.000644229	1	1	0
THRB	7068	broad.mit.edu	37	3	24174907	24174907	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:24174907C>G	ENST00000396671.2	-	9	1133	c.785G>C	c.(784-786)gGa>gCa	p.G262A	THRB_ENST00000416420.1_Missense_Mutation_p.G262A|THRB_ENST00000280696.5_Missense_Mutation_p.G277A|THRB_ENST00000356447.4_Missense_Mutation_p.G262A	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	262	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCAACCTTTCCACCTTCTGG	0.403000													11	31					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52182106	52182106	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:52182106G>A	ENST00000395718.2	+	10	1174	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	FRMD6_ENST00000356218.4_Missense_Mutation_p.G297R|FRMD6_ENST00000344768.5_Missense_Mutation_p.G305R|FRMD6_ENST00000554167.1_Missense_Mutation_p.G228R	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	305	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATACTACACGGGGTGCCCCAT	0.507000													18	54					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2617908	2617908	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:2617908G>C	ENST00000402050.2	+	7	682	c.498G>C	c.(496-498)ctG>ctC	p.L166L	IQCE_ENST00000404984.1_Silent_p.L115L|IQCE_ENST00000325979.7_Silent_p.L101L|IQCE_ENST00000438376.2_Silent_p.L150L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	166										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACGTGGACCTGATGAGAACGA	0.607000													8	88					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:155254735C>G	ENST00000285718.7	+	0	1180				WASH6P_ENST00000461007.1_RNA														p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587000													3	5					0	0	1	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153631333	153631333	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:153631333T>A	ENST00000369809.1	-	9	1353	c.724A>T	c.(724-726)Act>Tct	p.T242S	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.T242S	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	242					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCCGCAGTGTGCAGCAGA	0.662000													21	55					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32064717	32064717	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:32064717C>A	ENST00000375244.3	-	3	1114	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	TNXB_ENST00000479795.1_Missense_Mutation_p.D305Y|TNXB_ENST00000375247.2_Missense_Mutation_p.D305Y			P22105	TENX_HUMAN	tenascin XB	305	EGF-like 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCCACAGTCCTCGCCAGTG	0.682000													6	20					2.0095e-06	2.35294e-06	1	1	0
DGKB	1607	broad.mit.edu	37	7	14613927	14613927	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:14613927C>A	ENST00000403951.2	-	20	2102	c.1683G>T	c.(1681-1683)agG>agT	p.R561S	DGKB_ENST00000258767.5_Missense_Mutation_p.R561S|DGKB_ENST00000444700.2_Missense_Mutation_p.R542S|DGKB_ENST00000407950.1_Missense_Mutation_p.R553S|DGKB_ENST00000399322.3_Missense_Mutation_p.R561S|DGKB_ENST00000406247.3_Missense_Mutation_p.R561S|DGKB_ENST00000402815.1_Missense_Mutation_p.R560S|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	561	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAAACTTCCACCTGTCCAACA	0.363000													28	103					6.32553e-13	8.34763e-13	1	1	0
NME8	51314	broad.mit.edu	37	7	37889881	37889881	+	Nonsense_Mutation	SNP	A	A	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:37889881A>T	ENST00000199447.4	+	3	385	c.13A>T	c.(13-15)Aaa>Taa	p.K5*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.K5*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	5	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCAAGCAAAAAACGAGAAGT	0.328000													29	114					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381375	101381375	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:101381375G>T	ENST00000392979.3	+	7	917	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	ANO4_ENST00000392977.3_Missense_Mutation_p.D221Y|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	221						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATGAGGCTGGACAAGGAGAC	0.493000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	211					3.56336e-21	5.1453e-21	1	1	0
CENPF	1063	broad.mit.edu	37	1	214818284	214818284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:214818284G>T	ENST00000366955.3	+	13	5539	c.5371G>T	c.(5371-5373)Gag>Tag	p.E1791*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1887					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATGTGATAGAGGACCGTGA	0.368000													4	44					0.00024832	0.000270132	1	1	0
ZNF417	147687	broad.mit.edu	37	19	58427749	58427749	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:58427749G>C	ENST00000312026.5	-	1	195	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	CTD-2583A14.9_ENST00000602124.1_5'UTR|ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.Q11E	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACAATTACCTGAGTCGGGCGC	0.682000													5	49					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124291	151124291	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:151124291G>T	ENST00000370325.1	-	7	879	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	GABRE_ENST00000370328.3_Silent_p.R276R|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R163W(1)|p.R276W(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCCAAACCGCCTGCTCACA	0.488000													29	138					1.1904e-30	1.76641e-30	1	1	0
GLI2	2736	broad.mit.edu	37	2	121746816	121746816	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:121746816G>T	ENST00000452319.1	+	14	3386	c.3326G>T	c.(3325-3327)aGg>aTg	p.R1109M	GLI2_ENST00000361492.4_Missense_Mutation_p.R1109M|GLI2_ENST00000314490.11_Missense_Mutation_p.R781M			P10070	GLI2_HUMAN	GLI family zinc finger 2	1109					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGCCAGCGCAGGATGGTGGCT	0.647000													31	82					2.85442e-18	4.06691e-18	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71725005	71725005	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:71725005G>C	ENST00000393695.3	-	15	3875	c.3544C>G	c.(3544-3546)Cag>Gag	p.Q1182E	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q1182E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1182					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAGGCACTCTGACTGTGCCCT	0.647000			T	RARA	APL								4	56					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998038	115998038	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:115998038C>A	ENST00000264363.2	-	2	833	c.155G>T	c.(154-156)tGc>tTc	p.C52F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	52	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GATGTCAGTGCATTCTGCTTC	0.418000													5	29					0.00116845	0.00122156	1	1	0
SLC6A14	11254	broad.mit.edu	37	X	115584296	115584296	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:115584296T>C	ENST00000371900.4	+	9	1362	c.1274T>C	c.(1273-1275)tTt>tCt	p.F425S		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	425					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GATTCTCAGTTTGCTTCGATT	0.378000													10	34					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156390154	156390154	+	Missense_Mutation	SNP	A	A	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:156390154A>T	ENST00000274532.2	-	1	112	c.56T>A	c.(55-57)cTg>cAg	p.L19Q	TIMD4_ENST00000407087.3_Missense_Mutation_p.L19Q	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	19						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTACTCAGGTAAAGCCA	0.458000													25	57					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621715	32621715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:32621715C>A	ENST00000338921.4	+	13	2259	c.1742C>A	c.(1741-1743)tCa>tAa	p.S581*	NRG1_ENST00000356819.4_Nonsense_Mutation_p.S578*|NRG1_ENST00000519301.1_Nonsense_Mutation_p.S523*|NRG1_ENST00000539990.1_Nonsense_Mutation_p.S416*|NRG1_ENST00000287845.5_Nonsense_Mutation_p.S544*|NRG1_ENST00000287842.3_Nonsense_Mutation_p.S570*|NRG1_ENST00000405005.2_Nonsense_Mutation_p.S573*|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Nonsense_Mutation_p.S573*			Q02297	NRG1_HUMAN	neuregulin 1	573					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGCAGTAACTCAGAGAGTGAA	0.527000													22	27					1.64293e-13	2.19512e-13	1	1	0
PCDHB15	56121	broad.mit.edu	37	5	140626565	140626565	+	Silent	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:140626565C>G	ENST00000231173.3	+	1	1419	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		473	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCAGTGTCAGCGCCACAG	0.652000													20	146					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153221828	153221828	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:153221828G>C	ENST00000310441.7	-	16	3636	c.2670C>G	c.(2668-2670)gtC>gtG	p.V890V	HCFC1_ENST00000369984.4_Silent_p.V890V|HCFC1_ENST00000354233.3_Silent_p.V821V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	890	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTGGAGACGGTGCCTG	0.642000													10	120					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77612379	77612379	+	Silent	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:77612379A>G	ENST00000461745.1	+	11	2481	c.1581A>G	c.(1579-1581)aaA>aaG	p.K527K	ROBO2_ENST00000332191.8_Silent_p.K527K|ROBO2_ENST00000487694.3_Silent_p.K543K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	527	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACCATCCAAACCGCAGGTCA	0.463000													3	38					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32717249	32717249	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:32717249G>C	ENST00000357033.4	-	8	1017	c.811C>G	c.(811-813)Caa>Gaa	p.Q271E	DMD_ENST00000378677.2_Missense_Mutation_p.Q267E|DMD_ENST00000288447.4_Missense_Mutation_p.Q263E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	271					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAGTGCATTTGATGATGTAAC	0.363000													24	60					0	0	1	0	0
MIR523	574471	broad.mit.edu	37	19	54201662	54201662	+	RNA	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:54201662G>A	ENST00000385281.1	+	0	24					NR_030193.1																						CCCTCTAGAGGGAAGCGCTTT	0.423000													18	86					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75816695	75816695	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:75816695C>G	ENST00000550916.1	+	4	643	c.596C>G	c.(595-597)aCg>aGg	p.T199R	GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.T199R|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.T134R|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.D164E|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.D164E|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.T92R	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	199						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAACACTGACGAGAAGACCT	0.294000													16	119					0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141478	21141478	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:21141478C>T	ENST00000380229.2	-	1	666	c.92G>A	c.(91-93)gGc>gAc	p.G31D		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	31					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GCTAAGTAGGCCATGGTTCTG	0.532000													42	112					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120935629	120935629	+	Missense_Mutation	SNP	C	C	A	rs147434701	byFrequency	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:120935629C>A	ENST00000310396.5	+	23	3471	c.3004C>A	c.(3004-3006)Cat>Aat	p.H1002N		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCGCCATATCATGTCAGAGG	0.378000													15	77					1.49906e-05	1.68775e-05	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93826744	93826744	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:93826744C>A	ENST00000315765.9	+	13	2380	c.2372C>A	c.(2371-2373)aCg>aAg	p.T791K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	791	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.T795K(1)		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)				AGGGAATATACGGATGGAGAA	0.463000													30	111					1.39806e-14	1.92382e-14	1	1	0
WDR6	11180	broad.mit.edu	37	3	49052720	49052720	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:49052720G>A	ENST00000395474.3	+	6	3735	c.3455G>A	c.(3454-3456)tGa>tAa	p.*1152*	WDR6_ENST00000415265.2_Silent_p.*570*|WDR6_ENST00000448293.1_Silent_p.*1071*	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	0					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGTATGACTGAGGTATCCTG	0.612000													8	35					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544912	23544912	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:23544912C>A	ENST00000300619.7	-	4	1074	c.869G>T	c.(868-870)gGa>gTa	p.G290V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G258V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	290						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTTCTCTCCAGTGTGTAT	0.378000													16	59					1.62849e-17	2.29989e-17	1	1	0
PLEKHO2	80301	broad.mit.edu	37	15	65157577	65157577	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:65157577G>A	ENST00000323544.4	+	6	1091	c.963G>A	c.(961-963)ctG>ctA	p.L321L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	321	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGAGAAACTGAAAGCCTCCA	0.597000													11	76					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424020	21424020	+	Silent	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:21424020A>G	ENST00000304625.2	+	2	180	c.90A>G	c.(88-90)ccA>ccG	p.P30P		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	30					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAAACCTCCACAGTTTACCT	0.463000													9	76					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151506541	151506541	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:151506541G>T	ENST00000271636.7	+	15	2966	c.2833G>T	c.(2833-2835)Ggg>Tgg	p.G945W		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	939						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGACTGCAGGGGCTGGAGCA	0.657000													26	18					4.87955e-14	6.60175e-14	1	1	0
GABRE	2564	broad.mit.edu	37	X	151128369	151128369	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:151128369G>C	ENST00000370325.1	-	6	779	c.726C>G	c.(724-726)ctC>ctG	p.L242L	GABRE_ENST00000393914.3_Silent_p.L49L|GABRE_ENST00000370328.3_Silent_p.L242L			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	242					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAAACTGGAAGAGCTTCCAGG	0.438000													14	90					0	0	1	0	0
GPATCH11	253635	broad.mit.edu	37	2	37319141	37319141	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:37319141G>A	ENST00000409774.1	+	5	544	c.399G>A	c.(397-399)atG>atA	p.M133I	GPATCH11_ENST00000281932.5_Missense_Mutation_p.M30I	NM_174931.2	NP_777591.2			G patch domain containing 11																		AGATTCACATGAAAAACCAAG	0.358000													5	32					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183887	48183887	+	Nonsense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:48183887C>G	ENST00000396720.3	+	6	1654	c.1460C>G	c.(1459-1461)tCa>tGa	p.S487*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	487							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CAGCAGCTCTCAGCCCTGCCG	0.687000													4	41					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967548	106967548	+	RNA	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:106967548C>T	ENST00000390622.2	-	0	240																											ATGATGCTTTCAGGGCCCAGA	0.453000													5	24					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720531	140720531	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:140720531G>T	ENST00000394576.2	+	1	1993	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCCGTGGCCGACAGGAT	0.682000													21	76					0.000720815	0.000766015	1	1	0
MLLT6	4302	broad.mit.edu	37	17	36880883	36880883	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:36880883C>G	ENST00000325718.7	+	19	2985	c.2894C>G	c.(2893-2895)aCt>aGt	p.T965S		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	965	Gln-rich.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAACACCAGACTGTTGTCTAC	0.662000			T	MLL	AL								11	27					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006443	22006443	+	Missense_Mutation	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:22006443A>G	ENST00000306317.2	-	8	1166	c.877T>C	c.(877-879)Tac>Cac	p.Y293H	LGI3_ENST00000424267.2_Missense_Mutation_p.Y269H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	293					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACGACCACGTACAGCTGGCTG	0.632000													8	16					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68015312	68015312	+	Missense_Mutation	SNP	C	C	T	rs145635985	by1000genomes	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:68015312C>T	ENST00000262210.5	+	7	1022	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	CSPP1_ENST00000412460.1_Missense_Mutation_p.H37Y	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	366						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTATGGAACATGATGGGGA	0.348000													9	28					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604653	71604653	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:71604653G>A	ENST00000355962.4	-	8	974	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	281					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ACCAGCCAGCGCTTGGCCAGC	0.512000													7	40					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74592217	74592217	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr18:74592217C>T	ENST00000253159.8	+	8	1325	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L	ZNF236_ENST00000320610.9_Missense_Mutation_p.P378L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	376					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGCAGTCCCCGCAGCCTGGG	0.652000													15	37					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717766	137717766	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:137717766C>G	ENST00000343735.4	+	1	190	c.56C>G	c.(55-57)gCg>gGg	p.A19G		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	19					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						ATTGGGATTGCGGGCATCATT	0.582000													24	90					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201862	1201862	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:1201862C>A	ENST00000304460.10	+	1	153	c.97C>A	c.(97-99)Ccg>Acg	p.P33T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	33					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCTCCCGGCCGAAGTGGGA	0.672000													21	71					6.44725e-10	8.04657e-10	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47559913	47559913	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:47559913C>G	ENST00000273859.3	+	12	2326	c.2057C>G	c.(2056-2058)tCc>tGc	p.S686C	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	686					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCCCAGTGCTCCAGTAGCTCA	0.562000													4	64					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544913	23544913	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:23544913C>T	ENST00000300619.7	-	4	1073	c.868G>A	c.(868-870)Gga>Aga	p.G290R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G258R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	290						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTTCTCTCCAGTGTGTATC	0.378000													15	57					0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4668053	4668053	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:4668053G>T	ENST00000228843.9	+	10	1003	c.953G>T	c.(952-954)aGc>aTc	p.S318I	RAD51AP1_ENST00000544927.1_Missense_Mutation_p.A232S|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S268I|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S199I|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S301I	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	318	Interaction with RAD51.				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGTAGCAGCAGCCCACTGGTG	0.438000													5	52					0.000602214	0.000644229	1	1	0
PRSS1	5644	broad.mit.edu	37	7	142459757	142459757	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:142459757C>T	ENST00000486171.1	+	4	392	c.375C>T	c.(373-375)atC>atT	p.I125I	PRSS1_ENST00000311737.7_Silent_p.I111I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	111	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCATGTTAATCAAGCTCTCCT	0.557000													40	139					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58201498	58201498	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:58201498C>T	ENST00000537081.1	-	11	1185	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	AVIL_ENST00000257861.3_Missense_Mutation_p.E403K|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	403	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	p.E403*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCAGGTTCTCAATTCTCCAG	0.517000													7	52					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407327	50407327	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:50407327G>A	ENST00000217086.4	-	2	1806	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	565					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P565P(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACATTCGTTGGGATCAGTGG	0.552000													12	94					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45936815	45936815	+	Silent	SNP	C	C	T	rs148091491		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr10:45936815C>T	ENST00000374391.2	+	9	1262	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	ALOX5_ENST00000542434.1_Silent_p.F403F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	403	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)	ACGTGAGATTCACCATTGCAA	0.627000													17	122					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50642451	50642451	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:50642451C>G	ENST00000341247.4	-	2	233	c.84G>C	c.(82-84)aaG>aaC	p.K28N	LIMA1_ENST00000394943.3_Missense_Mutation_p.K28N	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	28					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATGACTTGTTCTTGTTGACAA	0.443000													6	54					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975199	19975199	+	Silent	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:19975199C>G	ENST00000295824.9	-	1	473	c.312G>C	c.(310-312)ctG>ctC	p.L104L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	104					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCCTGGCAACAGAGAAGGTT	0.453000													24	103					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698298	20698298	+	Splice_Site	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:20698298A>G	ENST00000404938.2	+	14	2358	c.1707_splice	c.e14+1	p.K569_splice	ABCB5_ENST00000443026.2_Splice_Site_p.K124_splice|ABCB5_ENST00000258738.6_Splice_Site_p.K124_splice|ABCB5_ENST00000406935.1_Splice_Site_p.K124_splice	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	124					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCACTGGAGAAGGTAAGTGAG	0.408000													3	39					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869653	151869653	+	Missense_Mutation	SNP	A	A	G	rs150557342	byFrequency	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:151869653A>G	ENST00000329342.5	+	3	568	c.343A>G	c.(343-345)Aag>Gag	p.K115E		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	115	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGTGGCCAAGTTGGTTCA	0.537000													12	202					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513536	61513536	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:61513536G>C	ENST00000266070.4	-	16	4097	c.3772C>G	c.(3772-3774)Cct>Gct	p.P1258A	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1258A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1258	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCGACCCAGGAGGTGTGGTG	0.627000													61	175					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215847856	215847856	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:215847856G>C	ENST00000366943.2	-	63	13783	c.13397C>G	c.(13396-13398)cCt>cGt	p.P4466R	USH2A_ENST00000307340.3_Missense_Mutation_p.P4466R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4466	Fibronectin type-III 30.				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)		GTTTCTTGGAGGTTTCCAGGT	0.453000										HNSCC(13;0.011)			4	130					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478815	141478815	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:141478815C>G	ENST00000247881.2	+	1	574	c.527C>G	c.(526-528)tCt>tGt	p.S176C	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	176					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGCATCTTGTCTTTAGTGGTT	0.418000													31	180					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2159364	2159364	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:2159364C>A	ENST00000262304.4	-	15	6012	c.5804G>T	c.(5803-5805)cGt>cTt	p.R1935L	PKD1_ENST00000423118.1_Missense_Mutation_p.R1935L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1935	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGGAGAAACGGGGCCCGGG	0.692000													4	21					0.014758	0.015231	1	1	0
XIST	7503	broad.mit.edu	37	X	73066237	73066237	+	RNA	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:73066237G>A	ENST00000429829.1	-	0	6351					NR_001564.2																						ACTGAGGTATGTGGAGAGGAC	0.478000													13	45					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53728116	53728116	+	Splice_Site	SNP	A	A	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:53728116A>C	ENST00000306052.6	-	11	1876		c.e11+1		LRP8_ENST00000460214.1_Splice_Site|LRP8_ENST00000465675.1_Splice_Site|LRP8_ENST00000354412.3_Splice_Site|LRP8_ENST00000347547.2_Splice_Site|LRP8_ENST00000371454.2_Splice_Site	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor						cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGCAGGGCTCACCCAGGGTGA	0.552000													43	129					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844429	106844429	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:106844429C>A	ENST00000276185.4	+	16	3259	c.3259C>A	c.(3259-3261)Ctg>Atg	p.L1087M				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1087						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGAGGACAGTCTGCCTGTTCA	0.577000													16	50					1.15088e-07	1.37763e-07	1	1	0
MED12	9968	broad.mit.edu	37	X	70340906	70340906	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:70340906G>T	ENST00000333646.6	+	5	838	c.639G>T	c.(637-639)ggG>ggT	p.G213G	MED12_ENST00000374080.3_Silent_p.G213G|MED12_ENST00000374102.1_Silent_p.G213G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	213					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGGAAGTGGGGGCTGTGGTT	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						31	76					3.57733e-08	4.31423e-08	1	1	0
TLN2	83660	broad.mit.edu	37	15	63030533	63030533	+	Splice_Site	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:63030533G>T	ENST00000561311.1	+	29	3917		c.e29+1		TLN2_ENST00000559908.1_Splice_Site|TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGTGGATTCGGTGAGAGGTTC	0.522000													11	93					3.07112e-06	3.55719e-06	1	1	0
OTC	5009	broad.mit.edu	37	X	38262952	38262952	+	Missense_Mutation	SNP	G	G	A	rs72558416		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:38262952G>A	ENST00000039007.4	+	6	774	c.622G>A	c.(622-624)Gca>Aca	p.A208T	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	208			A -> T (in OTCD; late onset).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.A208T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CATGATGAGCGCAGCGAAATT	0.468000													8	50					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117024785	117024785	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:117024785G>C	ENST00000284629.2	-	6	744	c.682C>G	c.(682-684)Cat>Gat	p.H228D		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	228					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GATACCTCATGATGTTTGTTT	0.289000													12	72					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406737	75406737	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr10:75406737G>A	ENST00000394810.2	-	4	2822	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Silent_p.S667S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	891	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTGCCGGAGTGGAAAACCGGC	0.607000													22	70					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604213	111604213	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:111604213G>A	ENST00000431670.2	+	2	1700	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	PHLDB2_ENST00000412622.1_Missense_Mutation_p.R430Q|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R430Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R430Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R457Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R430Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R430Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	430						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GATTATCACCGGCGGCAGAGG	0.517000													8	65					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766515	88766515	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:88766515G>A	ENST00000497649.2	+	6	801	c.423G>A	c.(421-423)ggG>ggA	p.G141G	MEPE_ENST00000361056.3_Silent_p.G165G|MEPE_ENST00000560249.1_Silent_p.G52G|MEPE_ENST00000424957.3_Silent_p.G165G|MEPE_ENST00000395102.4_Silent_p.G196G|MEPE_ENST00000540395.1_Silent_p.G52G|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	165					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.G165G(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AACTCCTGGGGGAAGAAAACA	0.403000													9	71					0	0	1	0	0
CTDSPL	10217	broad.mit.edu	37	3	38017284	38017284	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:38017284G>A	ENST00000443503.2	+	6	811	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Missense_Mutation_p.G202R	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	202	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTTTCATCGTGGGAACTACGT	0.537000													9	77					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163685	151163685	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:151163685G>C	ENST00000282466.3	-	4	4083	c.4084C>G	c.(4084-4086)Cca>Gca	p.P1362A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1362					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTCTGGAGAGATGTTT	0.463000													21	227					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131027930	131027930	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:131027930C>T	ENST00000421699.2	-	11	798	c.786G>A	c.(784-786)cgG>cgA	p.R262R		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	262						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCACACGCCGCCGGGAATACT	0.607000													10	37					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113496148	113496148	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:113496148G>A	ENST00000257600.3	+	1	654	c.151G>A	c.(151-153)Gtg>Atg	p.V51M		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	51	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CATTGAGAACGTGCTGAAGGA	0.652000													6	73					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487197	248487197	+	Missense_Mutation	SNP	A	A	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:248487197A>C	ENST00000317965.2	-	1	702	c.674T>G	c.(673-675)gTc>gGc	p.V225G		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	225					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)			CATGTGAATGACAGCCAGAAT	0.423000													58	200					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71428461	71428461	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:71428461G>T	ENST00000334463.3	-	2	291	c.156C>A	c.(154-156)ccC>ccA	p.P52P	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_5'UTR	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	52					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTTTTTCATTGGGAAAAATGT	0.388000													8	49					1.58986e-06	1.87522e-06	1	1	0
DHX40	79665	broad.mit.edu	37	17	57647981	57647981	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:57647981C>T	ENST00000451169.2	+	3	445	c.86C>T	c.(85-87)tCc>tTc	p.S29F	DHX40_ENST00000251241.4_Missense_Mutation_p.S128F|DHX40_ENST00000425628.3_Intron			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	128							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTTTGGGATCCAAAGTAGGA	0.383000													12	101					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76288233	76288233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:76288233C>T	ENST00000263187.3	+	7	1233	c.1129C>T	c.(1129-1131)Caa>Taa	p.Q377*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	377					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						AGAACTACTTCAAGATGAGGA	0.294000								Mismatch excision repair (MMR)					5	57					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100542518	100542518	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:100542518T>A	ENST00000372907.3	-	2	283	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	TAF7L_ENST00000324762.6_Missense_Mutation_p.Q5L|TAF7L_ENST00000372905.2_Missense_Mutation_p.Q5L|TAF7L_ENST00000356784.1_Missense_Mutation_p.Q5L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	91					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTTCATCCTGGCTTTCACT	0.373000													8	24					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242179421	242179421	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:242179421G>A	ENST00000391975.1	-	18	2513	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	HDLBP_ENST00000391976.2_Silent_p.I762I|HDLBP_ENST00000310931.4_Silent_p.I762I|HDLBP_ENST00000427183.2_Silent_p.I729I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	762	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCGCAGGGAAGATGACACGTG	0.577000													11	99					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11312765	11312765	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:11312765C>T	ENST00000294618.7	-	44	5499	c.5488G>A	c.(5488-5490)Gat>Aat	p.D1830N	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.D1169N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1830	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCGTAGGTATCAAAGTACGGT	0.597000													10	61					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65199520	65199520	+	Splice_Site	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:65199520G>C	ENST00000247226.7	+	10	1386		c.e10-1		PLEKHG3_ENST00000394691.1_Splice_Site	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCTGGGTGCAGATCCCAATCG	0.592000													3	12					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14610342	14610342	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:14610342C>T	ENST00000274217.3	+	8	1110	c.990C>T	c.(988-990)taC>taT	p.Y330Y		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	330										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AAGTCTGCTACCCAGAGGAGC	0.483000													7	125					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245833	166245833	+	Silent	SNP	C	C	G	rs148424455		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:166245833C>G	ENST00000375437.2	+	27	5807	c.5517C>G	c.(5515-5517)ctC>ctG	p.L1839L	SCN2A_ENST00000283256.6_Silent_p.L1839L|SCN2A_ENST00000357398.3_Silent_p.L1839L|SCN2A_ENST00000375427.2_Silent_p.L1839L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1839					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGTCCAGCTCATTGCCATGG	0.473000													31	114					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35444364	35444364	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:35444364C>A	ENST00000237536.4	-	5	1822	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L	SOGA1_ENST00000279034.5_Missense_Mutation_p.R256L|SOGA1_ENST00000456801.2_Missense_Mutation_p.R97L|SOGA1_ENST00000357779.3_Missense_Mutation_p.R256L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	256										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAAGGCCAGGCGTGCCTCAGG	0.672000													9	26					1.12685e-05	1.27763e-05	1	1	0
HIST3H3	8290	broad.mit.edu	37	1	228612711	228612711	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:228612711C>G	ENST00000366696.1	-	1	315	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	106					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TTGGTGTCCTCAAACAGCCCC	0.627000													6	76					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104390581	104390581	+	Silent	SNP	T	T	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:104390581T>G	ENST00000361820.3	-	4	3055	c.2455A>C	c.(2455-2457)Agg>Cgg	p.R819R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	819					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACATTGTACCTTCTCATATAT	0.428000													5	33					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520629	101520629	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:101520629G>T	ENST00000422132.1	+	2	841	c.644G>T	c.(643-645)cGt>cTt	p.R215L	NXPE3_ENST00000273347.5_Missense_Mutation_p.R215L|NXPE3_ENST00000477909.1_Missense_Mutation_p.R215L|NXPE3_ENST00000491511.1_Missense_Mutation_p.R215L					neurexophilin and PC-esterase domain family, member 3																		AGTCTCTTCCGTTCAGGAAGA	0.483000													22	29					2.70639e-06	3.14606e-06	1	1	0
WDR70	55100	broad.mit.edu	37	5	37443461	37443461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:37443461C>T	ENST00000265107.4	+	7	829	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.Q225*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	225										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGATCCCTTCAGCCCTGTGA	0.418000													10	70					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732512	37732512	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:37732512G>C	ENST00000330843.4	-	3	1155	c.1143C>G	c.(1141-1143)ctC>ctG	p.L381L	RAB11FIP1_ENST00000524118.1_Silent_p.L233L|RAB11FIP1_ENST00000287263.4_Silent_p.L381L|RAB11FIP1_ENST00000522727.1_Silent_p.L233L	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	381				QL -> DV (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGATTCGGAGAGCTGCCTGT	0.572000													39	45					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088589	94088589	+	Silent	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:94088589C>G	ENST00000553484.1	+	31	5230	c.5076C>G	c.(5074-5076)gtC>gtG	p.V1692V	UNC79_ENST00000393151.2_Silent_p.V1670V|UNC79_ENST00000256339.4_Silent_p.V1493V|UNC79_ENST00000555664.1_Silent_p.V1670V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1670						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCCTCCGTCCCCAGCCATC	0.527000													18	76					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63955275	63955275	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:63955275C>T	ENST00000443617.2	-	44	8896	c.8809G>A	c.(8809-8811)Gag>Aag	p.E2937K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2937					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCATCGCCTCATCATCAAGA	0.453000													18	108					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33454101	33454101	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:33454101G>A	ENST00000158009.5	+	2	365	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	84										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CAGCTCTGATGAGACCAGCAT	0.567000													9	83					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76890170	76890170	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:76890170C>A	ENST00000373344.5	-	17	4938	c.4724G>T	c.(4723-4725)tGc>tTc	p.C1575F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1537F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1575					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGACTCACAGCAGCAATCCCA	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						30	125					8.16721e-17	1.1484e-16	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50716683	50716683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr22:50716683C>A	ENST00000449103.1	-	31	4890	c.4750G>T	c.(4750-4752)Gag>Tag	p.E1584*	PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.E1584*			O15031	PLXB2_HUMAN	plexin B2	1584					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTTCTCCTCCTCCAGGAGG	0.682000													7	21					1.12685e-05	1.27763e-05	1	1	0
LY9	4063	broad.mit.edu	37	1	160784372	160784372	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:160784372C>A	ENST00000263285.5	+	4	923	c.893C>A	c.(892-894)aCg>aAg	p.T298K	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.T258K|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.T298K	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	298	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAAGCAGCAACGGCAGATCCA	0.527000													31	48					1.80694e-10	2.29975e-10	1	1	0
PSG9	5678	broad.mit.edu	37	19	43762358	43762358	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:43762358G>C	ENST00000244293.7	-	4	1026	c.960C>G	c.(958-960)gtC>gtG	p.V320V	PSG9_ENST00000596730.1_Silent_p.V227V|PSG9_ENST00000593948.1_Silent_p.V320V|PSG9_ENST00000443718.3_Silent_p.V320V|PSG9_ENST00000291752.5_Silent_p.V227V|PSG9_ENST00000270077.3_Silent_p.V413V|PSG9_ENST00000418820.2_Silent_p.V320V			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	413	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ACTTACCAGAGACTTTGACTG	0.443000													51	209					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104992979	104992979	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:104992979G>T	ENST00000372582.1	+	9	1831	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G359W	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	359					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAGCTTGCAGGGGGCCTGGG	0.413000													15	55					2.62699e-14	3.58428e-14	1	1	0
RENBP	5973	broad.mit.edu	37	X	153208437	153208437	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:153208437G>T	ENST00000393700.3	-	6	637	c.557C>A	c.(556-558)gCg>gAg	p.A186E	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.A172E|RENBP_ENST00000412763.1_Missense_Mutation_p.A186E	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	186					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CATGGGCTCCGCAGCCGGGGC	0.682000													26	84					9.80776e-20	1.40987e-19	1	1	0
KIF1A	547	broad.mit.edu	37	2	241697887	241697887	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:241697887C>A	ENST00000498729.2	-	26	2718	c.2472G>T	c.(2470-2472)atG>atT	p.M824I	KIF1A_ENST00000320389.7_Missense_Mutation_p.M815I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	815					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCGGTCGTACATCTCCCGCA	0.652000													4	10					1.23904e-05	1.3999e-05	1	1	0
SASH3	54440	broad.mit.edu	37	X	128925027	128925027	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:128925027C>A	ENST00000356892.3	+	4	526	c.412C>A	c.(412-414)Ctt>Att	p.L138I		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	138										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGAGCATGAACTTCCGGTGCT	0.622000													21	77					3.51602e-12	4.56515e-12	1	1	0
SNX5	27131	broad.mit.edu	37	20	17930849	17930849	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:17930849C>A	ENST00000377768.3	-	9	1030	c.718G>T	c.(718-720)Gtt>Ttt	p.V240F	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.V240F	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	240	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCATCGGCAACATCTGCAGAA	0.423000													11	53					9.70103e-10	1.20607e-09	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76024380	76024380	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:76024380T>C	ENST00000393004.2	-	5	1389	c.1168A>G	c.(1168-1170)Atg>Gtg	p.M390V	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.M291V|FILIP1_ENST00000237172.7_Missense_Mutation_p.M390V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	390										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTACCTTCCATTTCAAGCACA	0.418000													23	72					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29486610	29486610	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:29486610C>A	ENST00000182377.4	+	12	1699	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	FAR2_ENST00000536681.2_Silent_p.I477I|FAR2_ENST00000547116.1_Silent_p.I380I	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	477					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTTCCTTATCGCCTGGCGCC	0.428000													43	145					1.15183e-24	1.69356e-24	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101347086	101347086	+	Silent	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:101347086A>G	ENST00000344327.3	-	6	2114	c.1690T>C	c.(1690-1692)Ttg>Ctg	p.L564L	TRPC6_ENST00000360497.4_Silent_p.L509L|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Silent_p.L448L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	564					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGTCCTTCAAAGTATCATTT	0.363000													4	47					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227954727	227954727	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:227954727G>T	ENST00000366759.4	+	4	1605	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	SNAP47_ENST00000315781.5_Silent_p.L397L|SNAP47_ENST00000366760.1_Silent_p.L155L	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	397						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCACAGCACTGCACCTGCAGA	0.617000													6	27					2.0095e-06	2.35294e-06	1	1	0
HPX	3263	broad.mit.edu	37	11	6461905	6461905	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:6461905T>C	ENST00000265983.3	-	2	239	c.139A>G	c.(139-141)Act>Gct	p.T47A	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	47	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCCTCACCAGTCACGTCTGGG	0.433000													20	48					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552018	178552018	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:178552018G>T	ENST00000251582.7	-	19	3015	c.2914C>A	c.(2914-2916)Cgc>Agc	p.R972S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	972					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R972S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGAGCTCGCGGCTGCAGGCC	0.682000													30	59					1.08312e-15	1.5098e-15	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43306479	43306479	+	Nonsense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:43306479C>A	ENST00000361428.2	-	10	5334	c.5257G>T	c.(5257-5259)Gaa>Taa	p.E1753*	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1753					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTAACAGATTCTCTGAGGTGG	0.433000													6	65					0.00116845	0.00122156	1	1	0
ZNF470	388566	broad.mit.edu	37	19	57089397	57089397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:57089397G>T	ENST00000330619.8	+	6	2286	c.1600G>T	c.(1600-1602)Gag>Tag	p.E534*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.E534*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACACACTGGGGAGAAACCTTA	0.443000													11	49					0.000673444	0.000718043	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627805	43627805	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:43627805G>A	ENST00000332857.6	-	4	910	c.882C>T	c.(880-882)aaC>aaT	p.N294N	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGACTGATGAGTTAAAGGCGC	0.562000													78	168					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	95					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507000													10	69					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018568	5018568	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:5018568T>A	ENST00000307746.4	-	3	348	c.322A>T	c.(322-324)Agg>Tgg	p.R108W		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	108					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTTACTCTCCTGCAGAACGAG	0.493000													14	138					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16435580	16435580	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:16435580G>T	ENST00000380672.4	-	6	2669	c.2612C>A	c.(2611-2613)gCa>gAa	p.A871E	BNC2_ENST00000380666.2_Missense_Mutation_p.A871E|BNC2_ENST00000380667.2_Missense_Mutation_p.A804E|BNC2_ENST00000545497.1_Missense_Mutation_p.A776E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAGGGGAATGCAGCATTGCA	0.512000													15	48					9.16793e-09	1.12675e-08	1	1	0
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652000													7	102					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79282364	79282364	+	Silent	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:79282364A>G	ENST00000442340.1	+	6	925	c.435A>G	c.(433-435)caA>caG	p.Q145Q	TBX22_ENST00000373291.1_Silent_p.Q145Q|TBX22_ENST00000373296.3_Silent_p.Q265Q|TBX22_ENST00000373294.5_Silent_p.Q265Q	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	265					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACCAAAACCAACAGGTAAACT	0.453000													6	45					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766813	77766813	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:77766813G>T	ENST00000521891.2	+	10	8104	c.7656G>T	c.(7654-7656)ctG>ctT	p.L2552L	ZFHX4_ENST00000518282.1_Silent_p.L2526L|ZFHX4_ENST00000050961.6_Silent_p.L2507L|ZFHX4_ENST00000455469.2_Silent_p.L2507L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L2536L(1)		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)			GACAACTGCTGGGCAGTTCCC	0.517000										HNSCC(33;0.089)			34	54					3.62531e-18	5.14251e-18	1	1	0
HBZ	3050	broad.mit.edu	37	16	202965	202965	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:202965C>A	ENST00000252951.2	+	1	280	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	19						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCAAGATCTCCACGCAGGCCG	0.617000													5	24					8.12818e-05	8.96327e-05	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525551	176525551	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:176525551G>C	ENST00000367662.3	+	2	1257	c.93G>C	c.(91-93)aaG>aaC	p.K31N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K31N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	31					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K31N(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGACACGCAAGAAATCCTTGG	0.537000													25	91					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811935	100811935	+	Splice_Site	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:100811935G>A	ENST00000323346.5	+	11	1738		c.e11+1		SLC17A8_ENST00000392989.3_Splice_Site|SLC17A8_ENST00000552697.1_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGGCACAAGGTAAAGGTCTC	0.493000													12	96					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801096	44801096	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:44801096G>T	ENST00000309315.4	+	10	1412	c.1289G>T	c.(1288-1290)gGg>gTg	p.G430V	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G398V|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G372V|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G404V|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G430V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	430					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTGCGCGATGGGGTGGTCCTG	0.612000													20	54					1.96292e-10	2.47867e-10	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930381	46930381	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:46930381G>C	ENST00000264318.3	-	9	2508	c.1526C>G	c.(1525-1527)cCa>cGa	p.P509R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	509					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCAGAAGGTGGTGGAGCCGA	0.443000													30	109					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39228217	39228217	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:39228217C>G	ENST00000328867.4	-	9	1335	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	CAPN12_ENST00000601953.1_Missense_Mutation_p.E194Q	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	343	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCCAGCACCTCCGGGCTCAGC	0.697000													10	33					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596391	153596391	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:153596391G>A	ENST00000422373.1	-	3	689	c.441C>T	c.(439-441)caC>caT	p.H147H	FLNA_ENST00000360319.4_Silent_p.H147H|FLNA_ENST00000369850.3_Silent_p.H147H|FLNA_ENST00000344736.4_Silent_p.H147H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	147	Actin-binding.|CH 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGGAGTAGTGCAGGATCA	0.602000													41	197					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315718	125315718	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:125315718C>T	ENST00000373688.2	+	1	328	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATGCCTGTTTCACTTCTGCCT	0.483000													19	167					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159060	129159060	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:129159060C>A	ENST00000540052.1	+	6	3828	c.3784C>A	c.(3784-3786)Cca>Aca	p.P1262T	BCORL1_ENST00000218147.7_Missense_Mutation_p.P1262T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1262T|BCORL1_ENST00000359304.2_Intron	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1262					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACCCCCACCCCAGCTAAGCG	0.577000													28	115					1.04121e-07	1.25101e-07	1	1	0
VCAN	1462	broad.mit.edu	37	5	82779404	82779404	+	Nonsense_Mutation	SNP	A	A	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:82779404A>T	ENST00000265077.3	+	2	632	c.67A>T	c.(67-69)Aaa>Taa	p.K23*	VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000513984.1_Nonsense_Mutation_p.K23*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.K23*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.K23*|VCAN_ENST00000502527.2_Nonsense_Mutation_p.K23*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	23	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCGCTACATAAAGGTGAGTG	0.333000													3	16					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970474	63970474	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:63970474C>T	ENST00000443617.2	-	37	6727	c.6640G>A	c.(6640-6642)Gag>Aag	p.E2214K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2214					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATAGTGGCCTCAGCCAGCACT	0.433000													4	22					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128366381	128366381	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:128366381G>C	ENST00000389524.4	+	22	2795	c.2742G>C	c.(2740-2742)atG>atC	p.M914I	MYO7B_ENST00000409816.2_Missense_Mutation_p.M914I|MYO7B_ENST00000428314.1_Missense_Mutation_p.M914I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	914						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACACGGAGATGGTGGAGAAGG	0.627000													5	31					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21756187	21756187	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:21756187G>C	ENST00000206660.6	+	1	52	c.52G>C	c.(52-54)Gat>Cat	p.D18H	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D18H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D18H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D18H			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	18					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TAGAGACATAGATGCTATACC	0.453000													16	112					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140911616	140911616	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:140911616G>T	ENST00000277550.3	+	3	166	c.166G>T	c.(166-168)Gta>Tta	p.V56L	CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	763					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCGAGGTACTGTATCTCGCAG	0.468000													8	35					3.09899e-07	3.68219e-07	1	1	0
OFCC1	266553	broad.mit.edu	37	6	9900681	9900681	+	Missense_Mutation	SNP	C	C	G	rs142409717		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:9900681C>G	ENST00000316020.6	-	6	588	c.589G>C	c.(589-591)Ggg>Cgg	p.G197R	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTGGAACTCCCAGGTGCTTCA	0.438000													22	76					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295395	62295395	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:62295395G>A	ENST00000378024.4	-	5	6768	c.6494C>T	c.(6493-6495)gCa>gTa	p.A2165V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2165					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)				TTTCAACTTTGCATCAGGACA	0.488000													8	232					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288520	27288520	+	Translation_Start_Site	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:27288520G>A	ENST00000397497.4	+	0	105				PTK2B_ENST00000544172.1_Missense_Mutation_p.R266H|PTK2B_ENST00000420218.2_Missense_Mutation_p.R266H|PTK2B_ENST00000338238.4_Missense_Mutation_p.R266H|PTK2B_ENST00000397501.1_Missense_Mutation_p.R266H|PTK2B_ENST00000517339.1_Missense_Mutation_p.R266H|PTK2B_ENST00000346049.5_Missense_Mutation_p.R266H			Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta						apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGACCTACCGCTGTGAACTC	0.602000													4	74					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201754	71201754	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:71201754T>C	ENST00000273936.4	+	1	1057	c.998T>C	c.(997-999)cTa>cCa	p.L333P		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	333						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTACAAACCTAGTGGAAGAA	0.398000													21	60					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59124055	59124055	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:59124055G>T	ENST00000559228.1	+	6	1390	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H	FAM63B_ENST00000450403.2_Missense_Mutation_p.Q436H			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	436										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAACGGTTCAGGAAGGAGAAC	0.358000													10	30					0.000442599	0.000478245	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476633	120476633	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:120476633C>A	ENST00000355622.6	+	3	2328	c.2227C>A	c.(2227-2229)Cag>Aag	p.Q743K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q703K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	743	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCACTTCATCCAGAGCCGCTG	0.483000													12	43					1.61879e-10	2.06846e-10	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228148	3228148	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:3228148C>T	ENST00000217939.6	-	7	8250	c.8096G>A	c.(8095-8097)cGt>cAt	p.R2699H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2699	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGAGGCCTCACGAACCGTGAG	0.592000													12	51					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927609	45927609	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:45927609C>G	ENST00000311275.7	-	4	510	c.257G>C	c.(256-258)cGg>cCg	p.R86P	ZMYND8_ENST00000360911.3_Missense_Mutation_p.R81P|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R81P|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R113P|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R86P|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R81P|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R106P|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R106P|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R81P|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R61P|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R106P|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R86P|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R86P|ZMYND8_ENST00000468376.2_5'UTR			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	86							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAAATCATTCCGTCCATCCTG	0.488000													11	62					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70340905	70340905	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:70340905G>T	ENST00000333646.6	+	5	837	c.638G>T	c.(637-639)gGg>gTg	p.G213V	MED12_ENST00000374080.3_Missense_Mutation_p.G213V|MED12_ENST00000374102.1_Missense_Mutation_p.G213V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	213					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G213V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCAGGAAGTGGGGGCTGTGGT	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						31	76					3.57733e-08	4.31423e-08	1	1	0
GPR112	139378	broad.mit.edu	37	X	135487978	135487978	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:135487978C>A	ENST00000394143.1	+	23	9073	c.8782C>A	c.(8782-8784)Cag>Aag	p.Q2928K	GPR112_ENST00000412101.1_Missense_Mutation_p.Q2723K|GPR112_ENST00000394141.1_Missense_Mutation_p.Q2723K|GPR112_ENST00000370652.1_Missense_Mutation_p.Q2928K|GPR112_ENST00000287534.4_Missense_Mutation_p.Q2681K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2928					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCCAAATCCAGAAGACTCG	0.448000													26	97					7.92952e-12	1.02542e-11	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168349070	168349070	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:168349070G>T	ENST00000366806.2	+	29	3864	c.3722G>T	c.(3721-3723)cGg>cTg	p.R1241L	MLLT4_ENST00000447894.2_Missense_Mutation_p.R1241L|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1241L|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1240L|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1224L|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1241L|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1248L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1241					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCCAGGATCGGATGGCTCCT	0.488000			T	MLL	AL								20	31					3.99206e-14	5.42381e-14	1	1	0
PRG4	10216	broad.mit.edu	37	1	186277600	186277600	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:186277600G>C	ENST00000445192.2	+	7	2794	c.2749G>C	c.(2749-2751)Gac>Cac	p.D917H	PRG4_ENST00000367485.4_Missense_Mutation_p.D824H|PRG4_ENST00000367483.4_Missense_Mutation_p.D876H|PRG4_ENST00000367484.3_Missense_Mutation_p.D446H|PRG4_ENST00000367486.3_Missense_Mutation_p.D874H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	917					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACAGCTAAAGACAAGACAAC	0.428000													22	129					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128815	126128815	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:126128815C>A	ENST00000299308.3	+	6	1624	c.1616C>A	c.(1615-1617)gCt>gAt	p.A539D	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A51D	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	539						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATCCCGGTTGCTGCCAACAGA	0.577000													12	27					9.31168e-06	1.06703e-05	1	1	0
HOXA2	3199	broad.mit.edu	37	7	27140577	27140577	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:27140577G>T	ENST00000222718.5	-	2	1209	c.899C>A	c.(898-900)aCa>aAa	p.T300K		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	300						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CTGGCCCATTGTTGACAAGCA	0.502000													14	88					2.23348e-06	2.60573e-06	1	1	0
SYNGR1	9145	broad.mit.edu	37	22	39770513	39770513	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr22:39770513G>T	ENST00000328933.5	+	2	307	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	SYNGR1_ENST00000318801.4_Missense_Mutation_p.V98F|SYNGR1_ENST00000381535.4_Missense_Mutation_p.V99F|SYNGR1_ENST00000406293.3_Missense_Mutation_p.V98F|SYNGR1_ENST00000216155.7_Missense_Mutation_p.V98F	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GATCAGCAGCGTCAAGGACCG	0.657000													12	58					4.93089e-13	6.56094e-13	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56993823	56993823	+	Silent	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:56993823C>G	ENST00000179765.5	-	26	5059	c.4860G>C	c.(4858-4860)cgG>cgC	p.R1620R	BAZ2A_ENST00000551812.1_Silent_p.R1652R|BAZ2A_ENST00000549884.1_Silent_p.R1650R|BAZ2A_ENST00000379441.3_Silent_p.R1622R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1652					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGGCTGCGCTCCGGCACCGCT	0.587000													17	103					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42815047	42815047	+	Nonsense_Mutation	SNP	G	G	C	rs145401873		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:42815047G>C	ENST00000372980.3	-	1	1171	c.299C>G	c.(298-300)tCa>tGa	p.S100*	JPH2_ENST00000342272.3_Nonsense_Mutation_p.S100*	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	100	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCGCTGCTTGAGCTCTGCCG	0.622000													32	59					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796138	100796138	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:100796138T>C	ENST00000323346.5	+	7	1097	c.784T>C	c.(784-786)Tac>Cac	p.Y262H	SLC17A8_ENST00000392989.3_Missense_Mutation_p.Y262H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	262					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GATTATTTGGTACATGTTTTG	0.398000													9	37					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882676	152882676	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:152882676G>C	ENST00000368764.3	+	2	467	c.403G>C	c.(403-405)Gat>Cat	p.D135H	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	135					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)			CCAGCAACTGGATCAAGAGCT	0.493000													6	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458787	179458787	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:179458787C>G	ENST00000589042.1	-	297	58557	c.58333G>C	c.(58333-58335)Gag>Cag	p.E19445Q	TTN_ENST00000342175.6_Missense_Mutation_p.E10572Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17804Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16877Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10380Q|TTN_ENST00000359218.5_Missense_Mutation_p.E10505Q|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17804	Fibronectin type-III 41.						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)			TTGATCTTCTCTAAAGCAAGT	0.438000													16	97					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793532	186793532	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:186793532G>A	ENST00000169298.3	+	8	1836	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.E157K|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.E388K	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	388					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCACAGATGAGGACATCTA	0.507000													5	47					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769492	13769492	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:13769492C>A	ENST00000279593.3	-	5	1434	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	409					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCAGGGTCACAATGCTCAGA	0.527000													9	61					0.000274275	0.000297362	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685147	248685147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:248685147C>A	ENST00000343414.4	+	1	232	c.200C>A	c.(199-201)tCg>tAg	p.S67*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCAACCTCTCGTGTGTGGAC	0.502000													16	47					1.52009e-12	1.99783e-12	1	1	0
GPER1	2852	broad.mit.edu	37	7	1131643	1131643	+	Missense_Mutation	SNP	C	C	G	rs149535499	byFrequency	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:1131643C>G	ENST00000397092.1	+	3	1163	c.279C>G	c.(277-279)atC>atG	p.I93M	GPER_ENST00000397088.3_Missense_Mutation_p.I93M|GPER_ENST00000401670.1_Missense_Mutation_p.I93M|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.I93M|C7orf50_ENST00000397100.2_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		93						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		AGATGACCATCCCCGACCTGT	0.572000													7	78					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99047914	99047914	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:99047914C>T	ENST00000254898.5	+	19	3079	c.2848C>T	c.(2848-2850)Ctg>Ttg	p.L950L	MATN2_ENST00000524308.1_Silent_p.L908L|MATN2_ENST00000522025.2_Silent_p.L665L|MATN2_ENST00000521689.1_Silent_p.L930L|MATN2_ENST00000520016.1_Silent_p.L949L|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	949						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATGGAAGCCCTGGAAAATCG	0.353000													3	21					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1635515	1635515	+	Missense_Mutation	SNP	T	T	A	rs56410233		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:1635515T>A	ENST00000356200.3	-	15	1889	c.1655A>T	c.(1654-1656)cAg>cTg	p.Q552L	CDK11A_ENST00000495016.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q552L|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q585L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q586L|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q589L|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q576L					cyclin-dependent kinase 11A									p.Q585L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCGGTACCACTGGGTCACCAC	0.672000													3	35					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489707	58489707	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:58489707G>C	ENST00000341164.4	-	7	2961	c.2341C>G	c.(2341-2343)Caa>Gaa	p.Q781E	ZNF606_ENST00000536132.1_Missense_Mutation_p.Q691E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q781*(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGGTGTTGAAGTAGGGCT	0.373000													6	79					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501858	28501858	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:28501858C>T	ENST00000412168.2	+	5	669	c.580C>T	c.(580-582)Cct>Tct	p.P194S	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	194					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGATGGAATCCCTGTCATGCG	0.488000													19	78					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957117	49957117	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:49957117C>A	ENST00000376056.2	-	5	2370	c.2220G>T	c.(2218-2220)caG>caT	p.Q740H	AKAP4_ENST00000376058.2_Missense_Mutation_p.Q366H|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q740H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q749H			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	749					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTGATAGTTCTGTGGCATTG	0.493000													7	15					8.12818e-05	8.96327e-05	1	1	0
CD300E	342510	broad.mit.edu	37	17	72608914	72608914	+	Splice_Site	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:72608914T>A	ENST00000392619.1	-	4	614		c.e4-2		CD300E_ENST00000426295.2_Splice_Site|CD300E_ENST00000328630.3_Splice_Site	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule							integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGAACCTGTGGTGGACA	0.602000													30	65					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135862704	135862704	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:135862704C>A	ENST00000339463.3	+	7	955	c.136C>A	c.(136-138)Ctt>Att	p.L46I	GFI1B_ENST00000372124.1_Missense_Mutation_p.L46I|GFI1B_ENST00000450530.1_Missense_Mutation_p.L46I|GFI1B_ENST00000372122.1_Missense_Mutation_p.L46I|GFI1B_ENST00000534944.1_Missense_Mutation_p.L46I|GFI1B_ENST00000372123.1_Missense_Mutation_p.L46I			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	46					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CAGCCCTGTCCTTAGCACTCT	0.597000													5	23					0.00116845	0.00122156	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308943	248308943	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:248308943C>G	ENST00000366476.1	+	1	494	c.494C>G	c.(493-495)tCc>tGc	p.S165C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCGACATTTTCCTTCTCCTAC	0.443000													4	281					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184641	19184641	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:19184641G>A	ENST00000275461.3	-	1	403	c.345C>T	c.(343-345)ttC>ttT	p.F115F	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	115	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CGTTGAGGTTGAACATCCGCT	0.607000													11	32					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3131660	3131660	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:3131660G>A	ENST00000355072.5	+	13	1898	c.1753G>A	c.(1753-1755)Ggt>Agt	p.G585S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	585					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTGTTAGACGGTACCGACAA	0.512000													10	81					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2378631	2378631	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:2378631C>A	ENST00000202625.2	+	5	672	c.611C>A	c.(610-612)cCa>cAa	p.P204Q	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.P204Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	204					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CAAAACAACCCAGCCACCGAC	0.582000													14	55					9.05144e-12	1.16583e-11	1	1	0
PTPRA	5786	broad.mit.edu	37	20	3008360	3008360	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:3008360G>A	ENST00000216877.6	+	19	2166	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	PTPRA_ENST00000380393.3_Missense_Mutation_p.R598Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.R589Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.R589Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.R598Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.R454Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.R609Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	598	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGGCTACCGGCAGAAGGAC	0.527000													9	56					0	0	1	0	0
TRPT1	83707	broad.mit.edu	37	11	63992091	63992091	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:63992091G>C	ENST00000394546.2	-	5	645	c.432C>G	c.(430-432)ctC>ctG	p.L144L	TRPT1_ENST00000546133.1_Silent_p.L16L|TRPT1_ENST00000317459.6_Silent_p.L142L|TRPT1_ENST00000546089.1_Silent_p.L93L|TRPT1_ENST00000541278.1_Silent_p.L142L|TRPT1_ENST00000394547.3_Silent_p.L93L	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	142							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						ACAGGCCTTTGAGTAGGATGG	0.607000													4	48					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126144723	126144723	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:126144723C>A	ENST00000373624.2	-	22	2219	c.2018G>T	c.(2017-2019)aGg>aTg	p.R673M	DENND1A_ENST00000542603.1_Missense_Mutation_p.R458M|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.R684M	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	673	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTTCTGGGGCCTTCGAGGCAG	0.672000													4	55					0.00909568	0.00941739	1	1	0
TGM6	343641	broad.mit.edu	37	20	2378619	2378619	+	Missense_Mutation	SNP	A	A	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:2378619A>C	ENST00000202625.2	+	5	660	c.599A>C	c.(598-600)cAc>cCc	p.H200P	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.H200P	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	200					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCCCCGGTCACCAAAACAAC	0.592000													14	51					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463925	125463925	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:125463925C>T	ENST00000328599.3	+	1	878	c.757C>T	c.(757-759)Cta>Tta	p.L253L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	253					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTGCCTTTCCTAGTTCATGC	0.478000													14	214					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99930642	99930642	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:99930642G>C	ENST00000327681.6	-	8	1364	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	USP45_ENST00000392738.2_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.Q278E|USP45_ENST00000472914.2_Missense_Mutation_p.Q278E|USP45_ENST00000329966.5_Missense_Mutation_p.Q278E|USP45_ENST00000500704.2_Missense_Mutation_p.Q278E	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	278					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGACAAAGCTGATTAAAAAGA	0.353000													11	62					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060504	57060504	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:57060504G>A	ENST00000436936.1	+	6	1874	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	NLRC5_ENST00000308149.7_Missense_Mutation_p.R550Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.R550Q|NLRC5_ENST00000262510.6_Missense_Mutation_p.R550Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	550					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGGGTACAGCGGACCAAAGCT	0.622000													12	150					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													6	624					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84224883	84224883	+	Missense_Mutation	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:84224883A>G	ENST00000268624.3	+	1	140	c.47A>G	c.(46-48)aAg>aGg	p.K16R	ADAD2_ENST00000315906.5_Missense_Mutation_p.K16R|ADAD2_ENST00000567413.1_3'UTR	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	16					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTCGTAGGAAGCCCCGCCTG	0.716000													8	16					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482344	156482344	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:156482344G>T	ENST00000339252.3	-	2	779	c.247C>A	c.(247-249)Ctt>Att	p.L83I	HAVCR1_ENST00000522693.1_Missense_Mutation_p.L83I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.L83I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.L83I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.L83I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	83	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTTGAAAGGTCCCCCAAT	0.473000													8	47					0.000157383	0.000171788	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153035337	153035337	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:153035337C>A	ENST00000538966.1	+	8	1912	c.1641C>A	c.(1639-1641)caC>caA	p.H547Q	PLXNB3_ENST00000361971.5_Missense_Mutation_p.H524Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.H134Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.H177Q|PLXNB3_ENST00000538543.1_Missense_Mutation_p.H74Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	524					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAGCCACTGCCTGCACA	0.687000													7	32					8.12818e-05	8.96327e-05	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128439	147128439	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:147128439G>A	ENST00000282928.4	+	1	1269	c.540G>A	c.(538-540)caG>caA	p.Q180Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	180					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGTACGGCCAGGTGACCAGCC	0.687000													13	40					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876048	74876048	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:74876048C>T	ENST00000331628.3	-	2	647	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.D134N	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	134					response to biotic stimulus	Golgi apparatus|integral to membrane		p.D134N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TCCTCCTGGTCATCCTCCTGG	0.512000													39	160					0	0	1	0	0
IGKV1-33	28933	broad.mit.edu	37	2	89568178	89568178	+	RNA	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:89568178C>A	ENST00000473726.1	-	0	85																											CCTTCCTTACCTGAGAGCCAG	0.522000													16	64					2.4624e-09	3.0379e-09	1	1	0
POSTN	10631	broad.mit.edu	37	13	38154054	38154054	+	Missense_Mutation	SNP	A	A	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr13:38154054A>G	ENST00000379747.4	-	12	1721	c.1604T>C	c.(1603-1605)gTg>gCg	p.V535A	POSTN_ENST00000541179.1_Missense_Mutation_p.V535A|POSTN_ENST00000379749.4_Missense_Mutation_p.V535A|POSTN_ENST00000379742.4_Missense_Mutation_p.V535A|POSTN_ENST00000541481.1_Missense_Mutation_p.V535A|POSTN_ENST00000379743.4_Missense_Mutation_p.V535A	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	535	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTGGTTGGCACAAATAATGT	0.398000													4	65					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86712946	86712946	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:86712946C>T	ENST00000409556.1	+	22	3642	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W	KDM3A_ENST00000312912.5_Missense_Mutation_p.R1093W|KDM3A_ENST00000542128.1_Missense_Mutation_p.R1041W|KDM3A_ENST00000409064.1_Missense_Mutation_p.R1093W			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1093	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTACTTTGTTCGGCCAGATCT	0.418000													3	31					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129195	248129195	+	Missense_Mutation	SNP	C	C	A	rs74153218	byFrequency	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:248129195C>A	ENST00000366480.3	+	1	661	c.562C>A	c.(562-564)Ctc>Atc	p.L188I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TAGGTCTCGGCTCATTAACCA	0.443000													18	72					8.28177e-16	1.15945e-15	1	1	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		AGGACAGGCACAAACACGCAC	0.552000		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)			3	26					0.150653	0.152548	1	1	0
FOLR4	390243	broad.mit.edu	37	11	94040720	94040720	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:94040720G>T	ENST00000440961.2	+	4	638	c.594G>T	c.(592-594)cgG>cgT	p.R198R		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	205						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						ACAGTGGGCGGTGTCTCCAGA	0.602000													33	130					3.90053e-15	5.39043e-15	1	1	0
LAMP3	27074	broad.mit.edu	37	3	182870284	182870284	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:182870284G>A	ENST00000265598.3	-	3	1022	c.767C>T	c.(766-768)tCa>tTa	p.S256L	LAMP3_ENST00000466939.1_Missense_Mutation_p.S232L	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	256					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCTCCGAGGTGAAAAAACCTA	0.453000													28	245					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67333083	67333083	+	Splice_Site	SNP	T	T	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:67333083T>G	ENST00000355520.5	-	17	2003		c.e17-2		OPHN1_ENST00000540071.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAAAGATTCCTGAAATGAATG	0.423000													10	37					0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74981228	74981228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:74981228G>C	ENST00000428202.2	-	10	1400	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	POC5_ENST00000514838.2_Nonsense_Mutation_p.S376*|POC5_ENST00000446329.2_Nonsense_Mutation_p.S379*|POC5_ENST00000510798.1_Nonsense_Mutation_p.S287*|POC5_ENST00000380475.2_Nonsense_Mutation_p.S287*	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	404					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGAGGAGCTGAAGGATCCAA	0.498000													14	85					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192292	211192292	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:211192292T>C	ENST00000367007.4	-	6	1034	c.865A>G	c.(865-867)Atg>Gtg	p.M289V	KCNH1_ENST00000271751.4_Missense_Mutation_p.M289V	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	289					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGTAGTTCATGCGGATAAGT	0.443000													18	82					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166621405	166621405	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:166621405G>A	ENST00000392701.3	-	3	1452	c.677C>T	c.(676-678)gCt>gTt	p.A226V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	226	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATCTACACTAGCATCATCCAC	0.408000													8	89					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151216	13151216	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr10:13151216C>G	ENST00000378748.3	+	4	456	c.94C>G	c.(94-96)Ctg>Gtg	p.L32V	OPTN_ENST00000378757.2_Missense_Mutation_p.L32V|OPTN_ENST00000378764.2_Missense_Mutation_p.L32V|OPTN_ENST00000378747.3_Missense_Mutation_p.L32V|OPTN_ENST00000263036.5_Missense_Mutation_p.L32V|OPTN_ENST00000378752.3_Missense_Mutation_p.L32V|OPTN_ENST00000482140.1_3'UTR	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	32					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCACCCAAACCTGGACACGTT	0.597000													29	77					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41573326	41573326	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:41573326G>T	ENST00000396942.1	-	14	1529	c.1446C>A	c.(1444-1446)caC>caA	p.H482Q	ANK1_ENST00000289734.7_Missense_Mutation_p.H482Q|ANK1_ENST00000352337.4_Missense_Mutation_p.H482Q|ANK1_ENST00000396945.1_Missense_Mutation_p.H482Q|ANK1_ENST00000379758.2_Missense_Mutation_p.H482Q|ANK1_ENST00000347528.4_Missense_Mutation_p.H482Q|ANK1_ENST00000265709.8_Missense_Mutation_p.H515Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	482	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCATGTTTGTGTGGCCGATGC	0.557000													30	52					2.61193e-14	3.5789e-14	1	1	0
KIAA1432	57589	broad.mit.edu	37	9	5772969	5772969	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:5772969C>T	ENST00000414202.2	+	25	4063	c.3872C>T	c.(3871-3873)tCa>tTa	p.S1291L	KIAA1432_ENST00000418622.3_Missense_Mutation_p.S1212L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.S1175L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1291						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGAGAATCCTCAATAATCAAT	0.418000													4	30					0	0	1	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103104	55103104	+	Missense_Mutation	SNP	G	G	A	rs1132210		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:55103104G>A	ENST00000374971.1	+	3	239	c.187G>A	c.(187-189)Gtt>Att	p.V63I	PAGE2B_ENST00000374974.3_Intron	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	63										lung(3)	3						AGCACCTGCCGTTCAAGGTGA	0.463000													3	20					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132398968	132398968	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:132398968G>C	ENST00000331898.7	-	3	1091	c.513C>G	c.(511-513)caC>caG	p.H171Q	OPCML_ENST00000524381.1_Missense_Mutation_p.H164Q|OPCML_ENST00000374778.4_Missense_Mutation_p.H130Q|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.H171Q	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	171	Ig-like C2-type 2.				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)		TGACTGACAGGTGTCTCCATG	0.473000													20	48					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094281	91094281	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:91094281G>T	ENST00000265431.3	-	2	310	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	43	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GCGCCTGCTGGAGCTCCTGGA	0.438000													44	90					1.35964e-18	1.94579e-18	1	1	0
MT1JP	4498	broad.mit.edu	37	16	56669823	56669823	+	RNA	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr16:56669823G>T	ENST00000564564.1	+	0	149																											AGGGTCTCTGGGTTTGAGGAG	0.562000													9	43					1.12685e-05	1.27763e-05	1	1	0
TLR5	7100	broad.mit.edu	37	1	223286156	223286156	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:223286156T>A	ENST00000540964.1	-	4	679	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	TLR5_ENST00000342210.6_Missense_Mutation_p.Q73L			O60602	TLR5_HUMAN	toll-like receptor 5	73					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCCAGCAGCTGCAGCTGTTC	0.537000													28	54					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820125	113820125	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:113820125G>T	ENST00000393200.2	+	5	500	c.339G>T	c.(337-339)tcG>tcT	p.S113S	IL36RN_ENST00000346807.3_Silent_p.S113S	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	113						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCTTCGAGTCGGCTGCCTACC	0.602000													5	45					0.00116845	0.00122156	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10468061	10468061	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:10468061C>G	ENST00000382483.3	-	4	3770	c.3547G>C	c.(3547-3549)Gac>Cac	p.D1183H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1183					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACCCAAGGTCTGGCAGAGCC	0.617000													17	25					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22290536	22290536	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:22290536T>A	ENST00000306482.1	-	4	877	c.359A>T	c.(358-360)aAt>aTt	p.N120I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	120					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAGAGGCTCATTCCAGGATCG	0.433000													17	50					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646434	71646434	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:71646434G>T	ENST00000408926.3	+	5	1431	c.897G>T	c.(895-897)ttG>ttT	p.L299F	XKR9_ENST00000520030.1_Missense_Mutation_p.L299F|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	299						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGGGCACTTTGGGGATATTGA	0.333000													8	11					5.18039e-06	5.9788e-06	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32634799	32634799	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:32634799C>A	ENST00000242310.4	-	1	868	c.779G>T	c.(778-780)cGc>cTc	p.R260L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	260					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATGTAGGAAGCGTAACACTTT	0.493000													20	65					1.96292e-10	2.47867e-10	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74592216	74592216	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr18:74592216C>T	ENST00000253159.8	+	8	1324	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	ZNF236_ENST00000320610.9_Missense_Mutation_p.P378S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	376					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGGCAGTCCCCGCAGCCTGG	0.652000													15	37					0	0	1	0	0
TMEM47	83604	broad.mit.edu	37	X	34648555	34648555	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:34648555C>T	ENST00000275954.3	-	3	679	c.421G>A	c.(421-423)Gtg>Atg	p.V141M		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	141						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTCAAGCTCACAGTTTCAATG	0.408000													8	31					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190333	66190333	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:66190333C>A	ENST00000311034.2	+	4	795	c.619C>A	c.(619-621)Cct>Act	p.P207T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	207	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGCCCTGGCCCTGGCCCTGC	0.622000													19	82					1.67942e-08	2.04065e-08	1	1	0
RRM2B	50484	broad.mit.edu	37	8	103237126	103237126	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:103237126C>T	ENST00000251810.3	-	4	685	c.442G>A	c.(442-444)Gat>Aat	p.D148N	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.D96N|RRM2B_ENST00000519317.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	148					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TTCTTGGGATCTCTGATGTAA	0.378000								Modulation of nucleotide pools					4	31					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227311	35227311	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:35227311C>A	ENST00000339480.1	+	2	826	c.456C>A	c.(454-456)ctC>ctA	p.L152L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	152					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCCACCGCCTCTACAAGGATT	0.597000													9	12					0.38729	0.388497	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237405863	237405863	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:237405863C>A	ENST00000409907.3	-	2	553	c.279G>T	c.(277-279)ctG>ctT	p.L93L	IQCA1_ENST00000309507.5_Silent_p.L89L|IQCA1_ENST00000431676.2_Silent_p.L93L			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	93							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CCGTGAGTTCCAGCTCCACCA	0.493000													8	13					0.0477658	0.0489827	1	1	0
DMBX1	127343	broad.mit.edu	37	1	46976207	46976207	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:46976207G>A	ENST00000371956.4	+	2	244	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	DMBX1_ENST00000360032.3_Missense_Mutation_p.A72T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	77	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGCCGCACAGCGTTCACGGC	0.587000													6	41					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	14					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697019	156697019	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:156697019C>G	ENST00000313146.6	-	1	1208	c.426G>C	c.(424-426)caG>caC	p.Q142H	ISG20L2_ENST00000368219.1_Missense_Mutation_p.Q142H	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	142					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGATTTCTTCTGGGAGCTCT	0.488000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	176					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100328802	100328802	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:100328802C>A	ENST00000273352.3	+	1	370	c.102C>A	c.(100-102)atC>atA	p.I34I		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	34					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I34M(2)		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						GGATTGTGATCAGGATCCAAA	0.527000													15	33					1.56452e-12	2.04787e-12	1	1	0
NLRP9	338321	broad.mit.edu	37	19	56243773	56243773	+	Missense_Mutation	SNP	T	T	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:56243773T>A	ENST00000332836.2	-	2	1451	c.1424A>T	c.(1423-1425)cAg>cTg	p.Q475L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	475						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTACAAGCTGGGTTATGCT	0.473000													33	127					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101929744	101929744	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:101929744C>A	ENST00000348070.1	-	10	1231	c.1232G>T	c.(1231-1233)tGt>tTt	p.C411F	PCSK6_ENST00000358417.3_Missense_Mutation_p.C411F|PCSK6_ENST00000344273.2_Missense_Mutation_p.C411F|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.C411F|PCSK6_ENST00000331826.7_Missense_Mutation_p.C246F	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	412	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATCGGTACAGCGCTGACG	0.567000													10	78					1.33987e-11	1.71888e-11	1	1	0
GALNT7	51809	broad.mit.edu	37	4	174169199	174169199	+	Missense_Mutation	SNP	A	A	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:174169199A>T	ENST00000265000.4	+	2	278	c.195A>T	c.(193-195)agA>agT	p.R65S	GALNT7_ENST00000512285.1_Missense_Mutation_p.R65S	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	65					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGGAGGACAGATTCAAACCTG	0.463000													9	55					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72173246	72173246	+	Splice_Site	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr18:72173246G>T	ENST00000324262.4	+	4	683	c.367_splice	c.e4+1	p.G123_splice	CNDP2_ENST00000579847.1_Splice_Site_p.G123_splice|CNDP2_ENST00000324301.8_Intron	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	123						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGAGCGAGACGGTGAGCGCCG	0.562000													21	35					2.39556e-15	3.32488e-15	1	1	0
NPR3	4883	broad.mit.edu	37	5	32739137	32739137	+	Splice_Site	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:32739137G>A	ENST00000265074.8	+	3	1402		c.e3+1		NPR3_ENST00000415167.2_Splice_Site|NPR3_ENST00000434067.2_Splice_Site|NPR3_ENST00000415685.2_Splice_Site	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)						osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGATTACGTAAGTGCCTG	0.408000													7	118					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667000													4	120					0	0	1	0	0
BLOC1S4	55330	broad.mit.edu	37	4	6718315	6718315	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:6718315G>A	ENST00000320776.3	+	1	474	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino																		GAAGGCCGCCGAGATGCGGCG	0.677000													4	14					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562302	140562302	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:140562302G>T	ENST00000361016.2	+	1	1323	c.168G>T	c.(166-168)ttG>ttT	p.L56F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTGGGGTTGACAGAGATGT	0.532000													18	66					1.67942e-08	2.04065e-08	1	1	0
CEACAM1	634	broad.mit.edu	37	19	43023300	43023300	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:43023300G>C	ENST00000161559.6	-	5	1180	c.1046C>G	c.(1045-1047)tCc>tGc	p.S349C	LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000403444.3_Missense_Mutation_p.S349C|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000599389.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	349	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTCATTTGTGGAGCAGGTCAG	0.522000													22	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485575	179485575	+	Silent	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:179485575G>T	ENST00000589042.1	-	247	45986	c.45762C>A	c.(45760-45762)atC>atA	p.I15254I	TTN_ENST00000342175.6_Silent_p.I6381I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I13613I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.I12686I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.I6189I|TTN_ENST00000359218.5_Silent_p.I6314I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13613	Fibronectin type-III 11.						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)			TTTGGAGAATGATGTATTTTG	0.378000													6	88					0.00116845	0.00122156	1	1	0
SLFNL1	200172	broad.mit.edu	37	1	41486289	41486289	+	Missense_Mutation	SNP	G	G	T	rs148260553		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:41486289G>T	ENST00000359345.1	-	1	2620	c.44C>A	c.(43-45)cCc>cAc	p.P15H	SLFNL1_ENST00000397197.2_Missense_Mutation_p.P15H|SLFNL1_ENST00000372613.2_Missense_Mutation_p.P15H|SLFNL1_ENST00000302946.8_Missense_Mutation_p.P15H|SLFNL1_ENST00000372611.1_Missense_Mutation_p.P15H|SLFNL1_ENST00000439569.2_Missense_Mutation_p.P15H	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	15							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CTCCATGAAGGGCTCTGACAC	0.617000													12	42					4.36969e-10	5.47487e-10	1	1	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926373	22926373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:22926373G>T	ENST00000276431.4	-	1	319	c.35C>A	c.(34-36)tCg>tAg	p.S12*	RP11-875O11.2_ENST00000501897.1_RNA|TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.S12*|TNFRSF10B_ENST00000542226.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	12					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CCGGGCCCCCGAAGCGGCCGG	0.677000													4	33					1	1	1	1	0
MCTP2	55784	broad.mit.edu	37	15	94983437	94983437	+	Silent	SNP	A	A	G	rs144829336	byFrequency	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr15:94983437A>G	ENST00000357742.4	+	17	2118	c.2118A>G	c.(2116-2118)ctA>ctG	p.L706L	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	706					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATTTTGAACTATATATGATCC	0.408000													45	109					0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038804	110038804	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:110038804C>T	ENST00000420578.2	+	3	653	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	CYB561D1_ENST00000393709.3_Silent_p.L148L|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000369868.3_Silent_p.L227L|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000528785.1_Silent_p.L205L|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	205	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTGCCTGGCACTGCCCGTCTA	0.537000													15	116					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31884680	31884680	+	Missense_Mutation	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr22:31884680T>C	ENST00000397525.1	-	2	248	c.25A>G	c.(25-27)Aca>Gca	p.T9A	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T9A|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T9A|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.T9A	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	9						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTTTCTGTTTCACCCATA	0.443000													4	44					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507026	219507026	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:219507026C>T	ENST00000411696.2	-	7	4992	c.4213G>A	c.(4213-4215)Gag>Aag	p.E1405K	ZNF142_ENST00000449707.1_Missense_Mutation_p.E1405K			P52746	ZN142_HUMAN	zinc finger protein 142	1405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTGAAGTCTCCTCATGCTGT	0.622000													14	98					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410030	126410030	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:126410030G>T	ENST00000339582.2	-	7	2054	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M	GRM8_ENST00000405249.1_Missense_Mutation_p.L416M|GRM8_ENST00000444921.2_Missense_Mutation_p.L416M|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.L416M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	416					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATATTGTGCAGGGCGTAAGCC	0.443000										HNSCC(24;0.065)			13	54					4.36969e-10	5.47487e-10	1	1	0
PREX2	80243	broad.mit.edu	37	8	68950480	68950480	+	Silent	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr8:68950480G>A	ENST00000288368.4	+	7	1069	c.792G>A	c.(790-792)gtG>gtA	p.V264V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	264	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGAACGGGTGTTTTTTCTTT	0.403000													21	31					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772980	5772980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:5772980C>T	ENST00000414202.2	+	25	4074	c.3883C>T	c.(3883-3885)Cag>Tag	p.Q1295*	KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.Q1216*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.Q1179*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1295						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AATAATCAATCAGATTTTGGT	0.433000													4	28					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74810966	74810966	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr10:74810966C>G	ENST00000412021.2	-	8	1078	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	P4HA1_ENST00000263556.3_Missense_Mutation_p.E249Q|P4HA1_ENST00000440381.1_Missense_Mutation_p.E249Q|P4HA1_ENST00000307116.2_Missense_Mutation_p.E249Q|P4HA1_ENST00000373008.2_Missense_Mutation_p.E249Q|P4HA1_ENST00000394890.2_Missense_Mutation_p.E249Q	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	249						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATTATATACTCAAAATATTTT	0.353000													9	76					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103271378	103271378	+	Missense_Mutation	SNP	A	A	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:103271378A>T	ENST00000374879.4	+	3	830	c.398A>T	c.(397-399)aAa>aTa	p.K133I	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.E96D|TMEFF1_ENST00000334943.6_Missense_Mutation_p.K94I	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AAGCACCAGAAAGAGATAACA	0.373000													5	35					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358794	140358794	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:140358794C>G	ENST00000406427.1	-	27	3490	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q	PNPLA7_ENST00000371457.1_Missense_Mutation_p.E633Q|PNPLA7_ENST00000277531.4_Missense_Mutation_p.E1027Q|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1027	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTGCACCTCGATCTGCTGG	0.652000													20	123					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466590	110466590	+	Silent	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:110466590G>C	ENST00000329608.6	+	6	1738	c.1347G>C	c.(1345-1347)cgG>cgC	p.R449R	CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Silent_p.R449R|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	449					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGATCGGAGGAGCCCCG	0.642000													33	101					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541416	133541416	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:133541416C>G	ENST00000409261.1	-	14	3341	c.2968G>C	c.(2968-2970)Gaa>Caa	p.E990Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E990Q|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	990							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTGCACTTCTGTCGTGGCC	0.512000													4	31					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42577639	42577639	+	Splice_Site	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:42577639C>A	ENST00000381668.5	-	13	1437	c.1206_splice	c.e13+1	p.Q402_splice	ATP8A1_ENST00000264449.10_Splice_Site_p.Q402_splice	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	402					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGTTTACCTGGCCAAGTT	0.353000													23	92					2.21704e-12	2.89022e-12	1	1	0
GPER1	2852	broad.mit.edu	37	7	1131904	1131904	+	Silent	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:1131904C>G	ENST00000397092.1	+	3	1424	c.540C>G	c.(538-540)ctC>ctG	p.L180L	GPER_ENST00000397088.3_Silent_p.L180L|GPER_ENST00000401670.1_Silent_p.L180L|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000297469.3_Silent_p.L180L|C7orf50_ENST00000397100.2_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		180						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GCTGTGGCCTCATCTGGATGG	0.662000													7	55					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153041832	153041832	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:153041832G>T	ENST00000538966.1	+	29	5091	c.4820G>T	c.(4819-4821)gGt>gTt	p.G1607V	PLXNB3_ENST00000361971.5_Missense_Mutation_p.G1584V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.G1237V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1584					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGCTGGTCACCTGACC	0.577000													6	28					3.59834e-05	4.02314e-05	1	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6527624	6527624	+	Nonstop_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:6527624C>G	ENST00000377748.1	-	22	3748	c.3251G>C	c.(3250-3252)tGa>tCa	p.*1084S	PLEKHG5_ENST00000400915.3_Nonstop_Mutation_p.*1063S|PLEKHG5_ENST00000537245.1_Nonstop_Mutation_p.*1086S|PLEKHG5_ENST00000340850.5_Nonstop_Mutation_p.*1007S|PLEKHG5_ENST00000535355.1_Nonstop_Mutation_p.*1076S|PLEKHG5_ENST00000400913.1_Nonstop_Mutation_p.*1007S|PLEKHG5_ENST00000377732.1_Nonstop_Mutation_p.*1044S|PLEKHG5_ENST00000377725.1_3'UTR|PLEKHG5_ENST00000377737.2_Nonstop_Mutation_p.*1007S|PLEKHG5_ENST00000377728.3_Nonstop_Mutation_p.*1007S|PLEKHG5_ENST00000377740.3_Nonstop_Mutation_p.*853S	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCTCTGCTCAGACCTCCCT	0.627000													29	90					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176965305	176965305	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:176965305G>C	ENST00000404162.2	+	2	658	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	HOXD12_ENST00000406506.2_Silent_p.T210T	NM_021193.3	NP_067016.3	P35452	HXD12_HUMAN	homeobox D12	220						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AACCCTACACGAAGCAGCAGA	0.597000													4	15					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017558	36017558	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:36017558G>T	ENST00000452271.2	-	1	1654	c.1626C>A	c.(1624-1626)aaC>aaA	p.N542K	SBSN_ENST00000518157.1_Missense_Mutation_p.N199K	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	199						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGCAGCTGGTTGGCCTCCT	0.622000													26	106					2.2171e-23	3.23035e-23	1	1	0
SLC41A1	254428	broad.mit.edu	37	1	205770113	205770113	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:205770113C>G	ENST00000367137.3	-	3	1462	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	150						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGGGTCATTTCCAGGTTCCCT	0.577000													9	68					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625708	141625708	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:141625708C>T	ENST00000389484.3	-	26	5265	c.4294G>A	c.(4294-4296)Gtg>Atg	p.V1432M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1432					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)		AAGTGGTCCACAGTTAGTCCA	0.368000										TSP Lung(27;0.18)			5	87					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766549	57766549	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr20:57766549C>G	ENST00000371030.2	+	1	475	c.475C>G	c.(475-477)Cta>Gta	p.L159V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	159						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCAGTGTTCTAGAGAAGCA	0.647000													43	128					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8438756	8438756	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:8438756G>C	ENST00000301455.2	+	7	1378	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.E236Q|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.E365Q	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	403					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CATGGCAGCAGAGGCAGCCTC	0.647000													24	77					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621637	4621637	+	Missense_Mutation	SNP	C	C	A	rs146057620	by1000genomes	TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:4621637C>A	ENST00000300747.5	-	7	1616	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	443	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGTGGGAGCCACAGTCAGTC	0.537000													12	46					4.3838e-07	5.18965e-07	1	1	0
RADIL	55698	broad.mit.edu	37	7	4874544	4874544	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:4874544C>T	ENST00000399583.3	-	4	1297	c.1110G>A	c.(1108-1110)gcG>gcA	p.A370A	RADIL_ENST00000538469.1_Silent_p.A130A|RADIL_ENST00000536091.1_Silent_p.A370A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	370	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCCGGAGGCGCGCCAAGGCCC	0.771000													4	8					0	0	1	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383275	39383275	+	Silent	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:39383275C>A	ENST00000377721.3	+	1	376	c.369C>A	c.(367-369)ccC>ccA	p.P123P	KRTAP9-2_ENST00000455970.2_Silent_p.P107P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	123	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTACTACCCCACGACTGTCT	0.627000													12	173					1.33834e-09	1.65748e-09	1	1	0
GRIA4	2893	broad.mit.edu	37	11	105483139	105483139	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:105483139C>G	ENST00000393127.2	+	3	671	c.225C>G	c.(223-225)aaC>aaG	p.N75K	GRIA4_ENST00000428631.2_Missense_Mutation_p.N75K|GRIA4_ENST00000527669.1_Missense_Mutation_p.N75K|GRIA4_ENST00000393125.2_Missense_Mutation_p.N75K|GRIA4_ENST00000530497.1_Missense_Mutation_p.N75K|GRIA4_ENST00000282499.5_Missense_Mutation_p.N75K|GRIA4_ENST00000525187.1_Missense_Mutation_p.N75K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	75					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGACAGCCAACAGTTTTGCTG	0.388000													8	42					0	0	1	0	0
C14orf80	283643	broad.mit.edu	37	14	105965220	105965220	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:105965220G>T	ENST00000329886.7	+	8	1255	c.1002G>T	c.(1000-1002)caG>caT	p.Q334H	C14orf80_ENST00000392522.3_Missense_Mutation_p.Q406H|C14orf80_ENST00000392523.4_Missense_Mutation_p.Q475H|C14orf80_ENST00000354560.6_Missense_Mutation_p.Q373H|C14orf80_ENST00000334656.7_Missense_Mutation_p.Q332H|C14orf80_ENST00000450383.1_Missense_Mutation_p.Q228H|C14orf80_ENST00000392527.1_Missense_Mutation_p.Q332H	NM_001198983.1	NP_001185912.1	Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	475										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		AGTGTCGGCAGGAACTGGCCA	0.697000													4	15					0.000602214	0.000644229	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89868007	89868007	+	Splice_Site	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:89868007G>A	ENST00000534061.1	+	1	311	c.82_splice	c.e1+1	p.V27_splice	NAALAD2_ENST00000525171.1_Splice_Site_p.V27_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.V27_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.V27_splice	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	27					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)				GATTTATGGTGGGTAAGTGAA	0.552000													9	77					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642743	39642743	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr17:39642743G>C	ENST00000393986.2	-	8	1351	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C	KRT36_ENST00000328119.6_Missense_Mutation_p.S430C			O76013	KRT36_HUMAN	keratin 36	430	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCAGGGCACAGAGGGGACACA	0.592000													13	32					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130659481	130659481	+	Missense_Mutation	SNP	G	G	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:130659481G>A	ENST00000510168.1	+	7	918	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ATP2C1_ENST00000508532.1_Missense_Mutation_p.R123H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R107H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R123H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R107H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R107H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R68H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R123H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R123H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R157H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R123H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R118H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R107H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	123					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TAGGAATATCGTTCAGAAAAA	0.294000									Hailey-Hailey disease				3	26					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155296855	155296855	+	Silent	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:155296855C>G	ENST00000368352.5	+	8	2497	c.2346C>G	c.(2344-2346)ctC>ctG	p.L782L	RUSC1_ENST00000368354.3_Silent_p.L676L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Silent_p.L313L|RUSC1_ENST00000368349.4_Silent_p.L313L|RUSC1_ENST00000368347.4_Silent_p.L372L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	782						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCAGGGGCCTCTGGTTGGGAA	0.577000													16	141					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904593	100904593	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr12:100904593G>C	ENST00000548884.1	+	4	658	c.117G>C	c.(115-117)caG>caC	p.Q39H	NR1H4_ENST00000188403.7_Missense_Mutation_p.Q49H|NR1H4_ENST00000551379.1_Missense_Mutation_p.Q49H|NR1H4_ENST00000549996.1_Missense_Mutation_p.Q39H|NR1H4_ENST00000392986.3_Missense_Mutation_p.Q39H	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	49					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTCTGGGACAGAACCTGGAAG	0.428000													4	46					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153512	105153512	+	Missense_Mutation	SNP	C	C	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:105153512C>G	ENST00000428173.2	+	13	2185	c.1882C>G	c.(1882-1884)Cta>Gta	p.L628V	NRK_ENST00000243300.9_Missense_Mutation_p.L627V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	627							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCTTGGACACTAGAACCCCC	0.493000										HNSCC(51;0.14)			5	21					0	0	1	0	0
NOSIP	51070	broad.mit.edu	37	19	50062164	50062164	+	Missense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:50062164C>A	ENST00000391853.3	-	5	399	c.248G>T	c.(247-249)cGg>cTg	p.R83L	NOSIP_ENST00000596358.1_Missense_Mutation_p.R83L|NOSIP_ENST00000339093.3_Missense_Mutation_p.R83L	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	83					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTTCATCTGCCGGGCAATCTC	0.562000													108	437					2.82925e-58	4.21767e-58	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22292349	22292349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chrX:22292349C>A	ENST00000323684.1	+	1	1285	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	414						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CATGGTCGATCACATCATTCA	0.448000													16	58					1.74485e-21	2.53081e-21	1	1	0
IL17RE	132014	broad.mit.edu	37	3	9949947	9949947	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:9949947G>T	ENST00000454190.2	+	7	776	c.691G>T	c.(691-693)Gta>Tta	p.V231L	IL17RE_ENST00000295980.3_Missense_Mutation_p.V231L|IL17RE_ENST00000421412.1_Missense_Mutation_p.V264L|IL17RE_ENST00000383814.3_Missense_Mutation_p.V231L	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	231						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GGGCCACACTGTAGAGCTGCC	0.507000													4	11					0.184627	0.185781	1	1	0
GRM6	2916	broad.mit.edu	37	5	178417647	178417647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr5:178417647C>A	ENST00000231188.5	-	4	1136	c.958G>T	c.(958-960)Gag>Tag	p.E320*	GRM6_ENST00000517717.1_Nonsense_Mutation_p.E320*	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	320					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCACGTCCTCCAGGCTCAAG	0.672000													3	12					0.150653	0.152548	1	1	0
SCAMP4	113178	broad.mit.edu	37	19	1917781	1917781	+	Missense_Mutation	SNP	G	G	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr19:1917781G>C	ENST00000316097.8	+	3	363	c.96G>C	c.(94-96)gaG>gaC	p.E32D	SCAMP4_ENST00000409472.1_Missense_Mutation_p.E32D|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	32					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCAGTGGAGCACCAGGTCC	0.617000													6	50					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954894	141954894	+	Missense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr7:141954894G>T	ENST00000552471.1	-	3	736	c.417C>A	c.(415-417)agC>agA	p.S139R	PRSS58_ENST00000547058.2_Missense_Mutation_p.S139R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	139	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ACACATTGTAGCTCCAGGTAG	0.433000													37	148					2.19358e-23	3.2106e-23	1	1	0
TECTA	7007	broad.mit.edu	37	11	121016776	121016776	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:121016776C>T	ENST00000392793.1	+	12	4327	c.4056C>T	c.(4054-4056)tgC>tgT	p.C1352C	TECTA_ENST00000264037.2_Silent_p.C1352C|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1352					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCAGCACCTGCCAGACTCAGG	0.557000													4	177					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195444	92195444	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:92195444C>T	ENST00000212355.4	-	6	1120	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	TGFBR3_ENST00000370399.2_Missense_Mutation_p.E219K|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.E219K	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	219					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACACACCCTTCTGCTGCTTTG	0.473000													13	90					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689709	25689709	+	Silent	SNP	T	T	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:25689709T>C	ENST00000377961.2	+	9	750	c.582T>C	c.(580-582)tcT>tcC	p.S194S	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	194						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGCTTGTTCTACTGAAGAAA	0.393000													13	70					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134319585	134319585	+	Silent	SNP	A	A	C			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr9:134319585A>C	ENST00000357304.4	+	5	538	c.483A>C	c.(481-483)tcA>tcC	p.S161S	PRRC2B_ENST00000405995.1_Silent_p.S161S|PRRC2B_ENST00000458550.1_Silent_p.S161S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	161							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TAAGGGGCTCAAGCCGACTGT	0.532000													3	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152461159	152461159	+	Missense_Mutation	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:152461159C>T	ENST00000367255.5	-	140	25985	c.25384G>A	c.(25384-25386)Gag>Aag	p.E8462K	SYNE1_ENST00000354674.4_Missense_Mutation_p.E640K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8462K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E8074K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2986K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8414K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E617K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8414K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8462					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)		TGTTCCAACTCCTCCTCCGTG	0.547000										HNSCC(10;0.0054)			9	54					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91804433	91804433	+	Silent	SNP	C	C	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:91804433C>T	ENST00000389857.6	-	10	1052	c.966G>A	c.(964-966)gcG>gcA	p.A322A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	322					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCACGCGGTTCGCCTTCTCCC	0.622000													13	38					0	0	1	0	0
PSME1	5720	broad.mit.edu	37	14	24606563	24606563	+	Missense_Mutation	SNP	C	C	G	rs138520310		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:24606563C>G	ENST00000382708.3	+	4	232	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	PSME1_ENST00000206451.6_Missense_Mutation_p.L57V|PSME1_ENST00000561435.1_Missense_Mutation_p.L57V|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	57					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|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CTTGAGCAATCTGAAGGCCCC	0.567000													27	90					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													4	3					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483771	114483771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:114483771G>T	ENST00000369558.1	+	2	998	c.766G>T	c.(766-768)Gag>Tag	p.E256*	HIPK1_ENST00000369555.2_Nonsense_Mutation_p.E256*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.E256*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.E256*|HIPK1_ENST00000369561.4_Nonsense_Mutation_p.E256*|HIPK1_ENST00000369554.2_Nonsense_Mutation_p.E256*			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	256	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E256*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGTTCATACGAGTGCTTTCA	0.418000													24	59					5.35047e-06	6.15304e-06	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2429009	2429009	+	Frame_Shift_Del	DEL	G	G	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:2429009delG	ENST00000449969.1	+	16	2265	c.2104delG	c.(2104-2106)gcfs	p.G702fs	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Intron|PLCH2_ENST00000378486.3_Frame_Shift_Del_p.G729fs|PLCH2_ENST00000419816.2_Frame_Shift_Del_p.G729fs|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	729	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCAACGGTGGCTGCGGCTA	0.647													2	4	---	---	---	---					
DLGAP3	58512	broad.mit.edu	37	1	35351277	35351277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:35351277delG	ENST00000373347.1	-	7	1984	c.1716delC	c.(1714-1716)gcfs	p.A572fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.A572fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	572					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGGGCCCTCGGCCGCCGTGA	0.791													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	6	---	---	---	---					
HHIPL2	79802	broad.mit.edu	37	1	222717109	222717109	+	Frame_Shift_Del	DEL	C	C	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr1:222717109delC	ENST00000343410.6	-	2	802	c.744delG	c.(742-744)ggfs	p.G248fs		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	248					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCAGGCGACTCCCATCAGGGA	0.597													18	63	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099314	168099314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr2:168099314delA	ENST00000409195.1	+	9	1501	c.1412delA	c.(1411-1413)cgfs	p.Q471fs	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.Q249fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.Q471fs|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	296					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATTTTCCCAGTCCCCTGAA	0.418													11	65	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	4	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	-	CCG			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr6:161413044_161413045insCCG	ENST00000392142.4	+	1	229_230	c.81_82insCCG	c.(79-84)cccgcc>ccCCGcgcc	p.27_28PA>PRA	MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	27	Poly-Pro.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													4	3	---	---	---	---					
OR5M11	219487	broad.mit.edu	37	11	56310655	56310655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:56310655delG	ENST00000528616.2	-	1	102	c.79delC	c.(79-81)ttfs	p.L27fs		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCACAAAAAGCAGAGACTGG	0.468													10	91	---	---	---	---					
APOA4	337	broad.mit.edu	37	11	116692212	116692212	+	Frame_Shift_Del	DEL	C	C	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr11:116692212delC	ENST00000357780.3	-	3	676	c.562delG	c.(562-564)ccfs	p.A188fs		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCGATCTTGGCCTTGAGCTCG	0.642													37	190	---	---	---	---					
DCAF5	8816	broad.mit.edu	37	14	69557826	69557826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:69557826delA	ENST00000389997.6	-	7	931	c.927delT	c.(925-927)ttfs	p.F309fs	DCAF5_ENST00000341516.5_Intron|DCAF5_ENST00000554215.1_Intron|DCAF5_ENST00000557386.1_Intron|DCAF5_ENST00000556847.1_Intron|DCAF5_ENST00000553293.1_Intron			Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	0						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TGAGACTCAGAAAAGGCTGGA	0.443													2	4	---	---	---	---					
ATG2B	55102	broad.mit.edu	37	14	96757936	96757936	+	Splice_Site	DEL	C	C	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:96757936delC	ENST00000359933.4	-	38	6473		c.e38+1		ATG2B_ENST00000261834.5_Splice_Site	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATTCACTTACCCATGTCGAT	0.338													12	80	---	---	---	---					
PPP1R13B	23368	broad.mit.edu	37	14	104208269	104208269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-83-5908-01A-21D-2284-08	TCGA-83-5908-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2dbeebe-ffc4-4bab-a651-0a7ef4704f98	affa95b4-7354-4a7c-afe0-a7d00b452de6	g.chr14:104208269delT	ENST00000202556.9	-	11	1962	c.1680delA	c.(1678-1680)aafs	p.K560fs	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	560	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCCTTGACCCTTTATCAGCCA	0.552													18	101	---	---	---	---					
