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
FRY	10129	broad.mit.edu	37	13	32729801	32729801	+	Splice_Site	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr13:32729801T>A	ENST00000380250.3	+	15	2147		c.e15+2			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATGATAGGTGAGTTTCAGA	0.348000													4	9					0	0	0.000248	0	0
SLC4A10	57282	broad.mit.edu	37	2	162728868	162728868	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:162728868G>A	ENST00000375514.5	+	8	1152	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E278K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E278K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E278K|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	278					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTAGCAGAGAAAACAGCAC	0.373000											OREG0004894	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	16	85					0	0	0.004007	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046391	76046391	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76046391G>A	ENST00000335749.4	+	3	1817	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	TNRC6C_ENST00000588061.1_Silent_p.T416T|TNRC6C_ENST00000588847.1_Silent_p.T416T|TNRC6C_ENST00000301624.4_Silent_p.T416T|TNRC6C_ENST00000541771.1_Silent_p.T416T|TNRC6C_ENST00000544502.1_Silent_p.T416T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	416	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGAAGGAACGGGAGAAGGCC	0.507000													29	74					0	0	0.007291	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991166	+	Splice_Site	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:2991166T>A	ENST00000380542.4	-	7	543		c.e7-2		NAP1L4_ENST00000526115.1_Splice_Site	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418000													4	52					0	0	0.000248	0	0
ZIC4	84107	broad.mit.edu	37	3	147113999	147113999	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:147113999G>A	ENST00000383075.3	-	3	840	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	ZIC4_ENST00000484399.1_Missense_Mutation_p.P110S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.P148S|ZIC4_ENST00000525172.2_Missense_Mutation_p.P160S|ZIC4_ENST00000473123.1_Missense_Mutation_p.P110S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	110						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGACCGTGGGGCGCAGCGAGG	0.706000													9	52					0	0	0.004482	0	0
SCN4A	6329	broad.mit.edu	37	17	62029168	62029168	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:62029168C>G	ENST00000578147.1	-	14	2545	c.2469G>C	c.(2467-2469)caG>caC	p.Q823H	SCN4A_ENST00000435607.1_Missense_Mutation_p.Q823H			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	823					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGATGGCAATCTGCAGGTTGT	0.602000													3	6					0	0	0.004672	0	0
CCDC107	203260	broad.mit.edu	37	9	35661158	35661158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:35661158C>T	ENST00000426546.2	+	5	892	c.826C>T	c.(826-828)Cga>Tga	p.R276*	ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.R249*|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	276						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGAAGGTCGACTAAAACA	0.552000													11	51					0	0	0.008291	0	0
BCL11B	64919	broad.mit.edu	37	14	99640654	99640654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:99640654G>A	ENST00000345514.2	-	3	2572	c.2306C>T	c.(2305-2307)aCg>aTg	p.T769M	BCL11B_ENST00000357195.3_Missense_Mutation_p.T840M|BCL11B_ENST00000443726.2_Missense_Mutation_p.T646M	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	840						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGTGGCGCGTGAGCTTGCT	0.622000			T	TLX3	T-ALL								6	42					0	0	0.003080	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651737	128651737	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:128651737C>T	ENST00000281154.4	+	1	205	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	13					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GGCAGAAAAGCGGCTGTTTGA	0.567000													11	64					0	0	0.000978	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687032	68687032	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:68687032A>G	ENST00000361320.4	+	2	936	c.358A>G	c.(358-360)Aga>Gga	p.R120G	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAGTTCCAATAGAATCTCCTA	0.388000													25	99					0	0	0.002780	0	0
AQP1	358	broad.mit.edu	37	7	30951587	30951587	+	Silent	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:30951587G>T	ENST00000311813.4	+	1	118	c.63G>T	c.(61-63)acG>acT	p.T21T	AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCCTGGCCACGACCCTCTTTG	0.622000													16	37					3.45872e-05	5.12557e-05	0.004007	1	0
PRR14	78994	broad.mit.edu	37	16	30665627	30665627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:30665627C>G	ENST00000542965.2	+	6	1081	c.625C>G	c.(625-627)Ctg>Gtg	p.L209V	PRR14_ENST00000300835.4_Missense_Mutation_p.L209V			Q9BWN1	PRR14_HUMAN	proline rich 14	209	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCATCTGCTCTGCCTGCAGA	0.577000													4	182					0	0	0.000602	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990624	197990624	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990624G>A	ENST00000328737.2	-	5	400	c.324C>T	c.(322-324)gtC>gtT	p.V108V	ANKRD44_ENST00000337207.5_Silent_p.V108V|ANKRD44_ENST00000539527.1_Silent_p.V61V|ANKRD44_ENST00000409153.1_Silent_p.V133V|ANKRD44_ENST00000450567.1_Silent_p.V108V|ANKRD44_ENST00000282272.8_Silent_p.V125V|ANKRD44_ENST00000409919.1_Silent_p.V133V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	133							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGAGACATTGACACTGCTCA	0.547000													32	128					0	0	0.002096	0	0
CEP250	11190	broad.mit.edu	37	20	34091852	34091852	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:34091852G>A	ENST00000397527.1	+	30	6375	c.5655G>A	c.(5653-5655)ctG>ctA	p.L1885L	CEP250_ENST00000342580.4_Silent_p.L1829L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1885	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCAGGCCCTGGAGGAGGTGC	0.617000													12	31					0	0	0.001368	0	0
CMTR1	23070	broad.mit.edu	37	6	37429756	37429756	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:37429756C>T	ENST00000373451.4	+	12	1367	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	FTSJD2_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		401					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GAGGCCACTTCATCTGTAAAA	0.438000													36	152					0	0	0.004289	0	0
ARMC6	93436	broad.mit.edu	37	19	19153573	19153573	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:19153573C>T	ENST00000535612.1	+	3	515	c.83C>T	c.(82-84)tCc>tTc	p.S28F	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392335.2_Missense_Mutation_p.S3F|ARMC6_ENST00000269932.6_Missense_Mutation_p.S3F|ARMC6_ENST00000392336.3_Missense_Mutation_p.S28F	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	28							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AAGATGGTCTCCAAGCGCATT	0.577000													7	45					0	0	0.003080	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	130					0	0	0.000248	0	0
HELZ	9931	broad.mit.edu	37	17	65105354	65105354	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:65105354G>T	ENST00000358691.5	-	29	4533	c.4367C>A	c.(4366-4368)cCc>cAc	p.P1456H	HELZ_ENST00000580168.1_Missense_Mutation_p.P1457H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTGCAGCATGGGAGGGGGCTG	0.532000													17	70					2.23348e-06	3.37078e-06	0.004007	1	0
NFYA	4800	broad.mit.edu	37	6	41065110	41065110	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:41065110C>T	ENST00000341376.6	+	10	1206	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.A306A	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	335					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAACCAAGCCGATGAAGAAG	0.453000													15	56					0	0	0.003163	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407106	28407106	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:28407106G>A	ENST00000394835.3	+	16	3236	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.G891E	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1015							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAGCCCATGGAAATAAAAAG	0.428000													16	94					0	0	0.003163	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167279	140167279	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:140167279C>T	ENST00000504120.2	+	1	1404	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	PCDHA1_ENST00000378133.3_Silent_p.N468N|PCDHA1_ENST00000394633.3_Silent_p.N468N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACAACCCGCCGGGCT	0.667000													51	51					0	0	0.003610	0	0
PARP3	10039	broad.mit.edu	37	3	51979210	51979210	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:51979210G>T	ENST00000417220.2	+	7	1319	c.831G>T	c.(829-831)gaG>gaT	p.E277D	PARP3_ENST00000431474.1_Missense_Mutation_p.E277D|PARP3_ENST00000398755.3_Missense_Mutation_p.E284D			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	277	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCCCTGAGCTTCTGCAGG	0.627000													29	14					9.39395e-14	1.50059e-13	0.006320	1	0
TSC2	7249	broad.mit.edu	37	16	2134999	2134999	+	Nonsense_Mutation	SNP	C	C	G	rs137854193		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:2134999C>G	ENST00000219476.3	+	35	5171	c.4541C>G	c.(4540-4542)tCa>tGa	p.S1514*	TSC2_ENST00000568454.1_Nonsense_Mutation_p.S1458*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.S1399*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.S1471*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.S1447*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.S1491*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.S1411*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1514					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGACGAGTCAAACAAGCCA	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				3	40					0	0	0.004672	0	0
GALR2	8811	broad.mit.edu	37	17	74073206	74073206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:74073206C>A	ENST00000329003.3	+	2	948	c.858C>A	c.(856-858)tgC>tgA	p.C286*		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	286					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAACTCCTGCGTCAACCCCA	0.662000													4	24					0.00024832	0.00036146	0.000248	1	0
PCDH15	65217	broad.mit.edu	37	10	55912867	55912867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912867C>T	ENST00000373965.2	-	15	2192	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	PCDH15_ENST00000395446.1_Missense_Mutation_p.E593K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E593K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E593K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E204K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E593K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E598K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E593K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E571K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E600K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E556K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E593K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E571K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	593	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACCTTCGCTCTGCAGGAGGA	0.458000										HNSCC(58;0.16)			12	45					0	0	0.000978	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41623845	41623845	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:41623845G>A	ENST00000216237.5	+	15	2018	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	620	Poly-Lys.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCCACAAAGAAGAAAAAGA	0.572000													6	36					0	0	0.001168	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573476	136573476	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:136573476G>C	ENST00000446465.2	+	2	802	c.174G>C	c.(172-174)ctG>ctC	p.L58L	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.L58L|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	58						Golgi apparatus|integral to membrane											AAGGTCTGCTGAGTGAAATGA	0.398000													23	184					0	0	0.003330	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	67					0	0	0.008291	0	0
SORCS3	22986	broad.mit.edu	37	10	107012616	107012616	+	Silent	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:107012616C>A	ENST00000369701.3	+	23	3416	c.3189C>A	c.(3187-3189)ccC>ccA	p.P1063P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1063						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCTTCCACCCAAGAACCTGA	0.517000													11	56					6.40141e-05	9.37349e-05	0.000978	1	0
CLSTN2	64084	broad.mit.edu	37	3	140281716	140281716	+	Missense_Mutation	SNP	C	C	T	rs139860767		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:140281716C>T	ENST00000458420.3	+	14	2466	c.2276C>T	c.(2275-2277)cCg>cTg	p.P759L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	759					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.P759L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AACTGGCGTCCGGCTTCCCTT	0.567000										HNSCC(16;0.037)			12	55					0	0	0.000978	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418373	139418373	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:139418373G>T	ENST00000277541.6	-	3	274	c.199C>A	c.(199-201)Ccc>Acc	p.P67T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	67	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTGCAGGGGGTGCTGAGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	7					0.000602214	0.000866344	0.000602	1	0
PCDH1	5097	broad.mit.edu	37	5	141244696	141244696	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:141244696C>G	ENST00000287008.3	-	3	1347	c.1200G>C	c.(1198-1200)ggG>ggC	p.G400G	PCDH1_ENST00000456271.1_Silent_p.G388G|PCDH1_ENST00000536585.1_Silent_p.G378G|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.G400G	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	400	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTTAGCCATCCCATCTTGAT	0.567000													35	91					0	0	0.002836	0	0
ILK	3611	broad.mit.edu	37	11	6631166	6631166	+	Splice_Site	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:6631166G>A	ENST00000396751.2	+	10	1434		c.e10-1		ILK_ENST00000537806.1_Splice_Site|ILK_ENST00000528995.1_Splice_Site|ILK_ENST00000526711.1_Splice_Site|ILK_ENST00000420936.2_Splice_Site|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Splice_Site	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase						cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCTTCCTCAGATTGATGAGG	0.512000													6	103					0	0	0.003080	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545966	148545966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:148545966G>C	ENST00000296582.3	+	4	877	c.303G>C	c.(301-303)ttG>ttC	p.L101F	TMEM184C_ENST00000508208.1_Missense_Mutation_p.L101F	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	101						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GGATAGCTTTGAAATATCCCG	0.333000													15	30					0	0	0.002450	0	0
SNHG14	104472715	broad.mit.edu	37	15	25327970	25327970	+	RNA	SNP	A	A	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:25327970A>T	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA	NR_003361.1																						AAAATGAGTGAAAACTCTATA	0.468000													36	152					0	0	0.003271	0	0
RNF20	56254	broad.mit.edu	37	9	104319876	104319876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104319876C>T	ENST00000389120.3	+	16	2470	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	794					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTGAAGACTCAGGTAATTAG	0.388000													7	30					0	0	0.001984	0	0
SIM1	6492	broad.mit.edu	37	6	100896434	100896434	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:100896434C>T	ENST00000369208.3	-	7	1446	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	SIM1_ENST00000262901.4_Missense_Mutation_p.V222I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	222	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTCCGTGACGGCGCTGGGA	0.602000													8	7					0	0	0.003080	0	0
KCND2	3751	broad.mit.edu	37	7	119914945	119914945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:119914945C>G	ENST00000331113.4	+	1	1224	c.259C>G	c.(259-261)Cgt>Ggt	p.R87G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTTCTTTGACCGTGACCCAGA	0.527000													39	119					0	0	0.005524	0	0
IL18R1	8809	broad.mit.edu	37	2	103006518	103006518	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:103006518G>T	ENST00000409599.1	+	10	1308	c.952G>T	c.(952-954)Gac>Tac	p.D318Y	IL18R1_ENST00000233957.1_Missense_Mutation_p.D318Y			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	318					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTTCTAGCAGACATGGCTGA	0.403000													19	26					2.35188e-11	3.68511e-11	0.006122	1	0
HDAC7	51564	broad.mit.edu	37	12	48196010	48196010	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:48196010C>T	ENST00000080059.7	-	2	66	c.67G>A	c.(67-69)Gca>Aca	p.A23T	HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	207	Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602000											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	0.006214	0	0
EXOC3	11336	broad.mit.edu	37	5	453741	453741	+	Silent	SNP	C	C	T	rs3822755	by1000genomes	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:453741C>T	ENST00000512944.1	+	4	810	c.621C>T	c.(619-621)acC>acT	p.T207T	EXOC3_ENST00000315013.5_Silent_p.T207T	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	218					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGACCCCACCTTGCTGGTCT	0.547000													38	89					0	0	0.006230	0	0
FLG	2312	broad.mit.edu	37	1	152281946	152281946	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:152281946A>C	ENST00000368799.1	-	3	5451	c.5416T>G	c.(5416-5418)Tcc>Gcc	p.S1806A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1806	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTTGGGACGCTGAGTGC	0.592000									Ichthyosis				96	393					0	0	0.003610	0	0
RAD51	5888	broad.mit.edu	37	15	41022163	41022163	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:41022163C>T	ENST00000267868.3	+	9	1155	c.887C>T	c.(886-888)tCa>tTa	p.S296L	RAD51_ENST00000557850.1_Missense_Mutation_p.S199L|RAD51_ENST00000423169.2_Intron|RAD51_ENST00000532743.1_Missense_Mutation_p.S297L|RAD51_ENST00000382643.3_Missense_Mutation_p.S297L|RAD51_ENST00000530766.1_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	296					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCCCATGCATCAACAACCAGG	0.408000								Homologous recombination					19	23					0	0	0.007413	0	0
RHOT2	89941	broad.mit.edu	37	16	723125	723125	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:723125C>T	ENST00000315082.4	+	18	1839	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	575	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCATGGCCGCCTTCCCGTGGG	0.667000													6	24					0	0	0.001168	0	0
OSBPL7	114881	broad.mit.edu	37	17	45890757	45890757	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45890757C>T	ENST00000007414.3	-	16	1803	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A538T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	538					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGCAAAGGCTGCGATGTAC	0.622000													15	28					0	0	0.003163	0	0
CCL28	56477	broad.mit.edu	37	5	43382119	43382119	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:43382119G>T	ENST00000361115.4	-	3	301	c.227C>A	c.(226-228)cCg>cAg	p.P76Q	CCL28_ENST00000513525.1_Missense_Mutation_p.P29Q|CCL28_ENST00000537013.1_Missense_Mutation_p.R109S	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	76					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						ATGGTTGTGCGGGCTGACACA	0.403000													4	104					0.000602214	0.000866344	0.000602	1	0
TBCEL	219899	broad.mit.edu	37	11	120957653	120957653	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:120957653C>G	ENST00000422003.2	+	8	1311	c.1123C>G	c.(1123-1125)Cta>Gta	p.L375V	TBCEL_ENST00000529397.1_Missense_Mutation_p.L375V	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	375	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTTAAAAACTCTAGTACAATT	0.433000													4	14					0	0	0.000248	0	0
PRPF39	55015	broad.mit.edu	37	14	45564523	45564523	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:45564523T>A	ENST00000355765.6	+	2	251	c.81T>A	c.(79-81)caT>caA	p.H27Q		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	27					mRNA processing|RNA splicing	nucleus	binding	p.H27H(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TGGTAGAACATCCTACTGATT	0.393000													7	422					0	0	0.001984	0	0
CEBPZ	10153	broad.mit.edu	37	2	37449559	37449559	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:37449559C>G	ENST00000234170.5	-	4	2174	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	677					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GAAGCAACCTCTGGTTTTTTG	0.353000													11	74					0	0	0.001368	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205889	36205889	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:36205889G>A	ENST00000392197.2	+	3	679	c.361G>A	c.(361-363)Gat>Aat	p.D121N	ZBTB32_ENST00000262630.3_Missense_Mutation_p.D121N			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	121					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAAAAAGCCAGATCCAGGCCT	0.587000													182	322					0	0	0.003610	0	0
TESPA1	9840	broad.mit.edu	37	12	55356372	55356372	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:55356372C>A	ENST00000524622.1	-	7	1557	c.896G>T	c.(895-897)aGa>aTa	p.R299I	TESPA1_ENST00000449076.1_Missense_Mutation_p.R437I|TESPA1_ENST00000316577.8_Missense_Mutation_p.R437I|TESPA1_ENST00000531122.1_Missense_Mutation_p.R299I|TESPA1_ENST00000532804.1_Missense_Mutation_p.R299I	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	437																	CTTTCTTGCTCTGCTCTTTCT	0.493000													39	212					2.75727e-19	4.55228e-19	0.004878	1	0
FLT4	2324	broad.mit.edu	37	5	180038443	180038443	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:180038443G>C	ENST00000261937.6	-	27	3652	c.3574C>G	c.(3574-3576)Cag>Gag	p.Q1192E	FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192E|FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGAGCTCTGAGAGCTGCGC	0.672000													5	78					0	0	0.000602	0	0
CUX2	23316	broad.mit.edu	37	12	111758419	111758419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:111758419C>T	ENST00000261726.6	+	17	2760	c.2606C>T	c.(2605-2607)cCg>cTg	p.P869L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	869						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCTACTACCCGGCCTACGTG	0.726000													5	2					0	0	0.000602	0	0
KRI1	65095	broad.mit.edu	37	19	10665783	10665783	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:10665783G>C	ENST00000312962.6	-	18	1798	c.1779C>G	c.(1777-1779)ttC>ttG	p.F593L	KRI1_ENST00000361821.5_Missense_Mutation_p.F589L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	593										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGAGTGACTTGAAGACCTGCC	0.602000													8	43					0	0	0.004482	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461339	5461339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:5461339C>T	ENST00000296564.7	+	13	2114	c.1892C>T	c.(1891-1893)tCt>tTt	p.S631F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	631										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACCAGTTTTTCTTCCTCTTCT	0.413000													17	96					0	0	0.004007	0	0
GUSBP1	728411	broad.mit.edu	37	5	21497247	21497247	+	RNA	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:21497247A>G	ENST00000607545.1	+	0	179					NR_027026.1																						GGTGTAAGACATCACAATCCC	0.493000													13	63					0	0	0.001855	0	0
CCDC146	57639	broad.mit.edu	37	7	76891594	76891594	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:76891594T>C	ENST00000285871.4	+	9	1270	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	CCDC146_ENST00000431197.1_Silent_p.T127T|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	381										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTAGGCAAACTCAAGCACTGC	0.378000													11	51					0	0	0.008291	0	0
SULF1	23213	broad.mit.edu	37	8	70515533	70515533	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:70515533G>A	ENST00000260128.4	+	11	1885	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	SULF1_ENST00000458141.2_Missense_Mutation_p.D390N|SULF1_ENST00000402687.4_Missense_Mutation_p.D390N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D390N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	390					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAACTTCTGGACCCAGAAAA	0.552000													7	124					0	0	0.003080	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606646	82606646	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82606646T>G	ENST00000518568.1	-	1	1763	c.562A>C	c.(562-564)Atg>Ctg	p.M188L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	188						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAATGGCATCAGAAAAAAC	0.463000													20	102					0	0	0.008871	0	0
TDP1	55775	broad.mit.edu	37	14	90509414	90509414	+	Splice_Site	SNP	A	A	G	rs148839664		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:90509414A>G	ENST00000335725.4	+	17	2004	c.1753_splice	c.e17-1	p.D585_splice	TDP1_ENST00000357382.3_Splice_Site_p.D346_splice|TDP1_ENST00000555880.1_Splice_Site_p.I549_splice|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Splice_Site_p.D585_splice	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	585					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTTCCCCCAGATCGGCCATGG	0.418000								Repair of DNA-protein crosslinks					11	129					0	0	0.001855	0	0
NKTR	4820	broad.mit.edu	37	3	42660540	42660540	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:42660540G>C	ENST00000232978.8	+	4	350	c.162G>C	c.(160-162)ggG>ggC	p.G54G	RP4-613B23.1_ENST00000445452.1_RNA|NKTR_ENST00000442970.1_Silent_p.G54G|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	54	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACAACTGGGAAGAAGTTAT	0.348000													10	28					0	0	0.006214	0	0
SERPINC1	462	broad.mit.edu	37	1	173883822	173883822	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:173883822T>G	ENST00000367698.3	-	2	395	c.277A>C	c.(277-279)Act>Cct	p.T93P	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	93					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGATAGAAAGTGGTAGCAAAG	0.522000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	85					0	0	0.002299	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813510	101813510	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:101813510G>C	ENST00000506729.1	-	3	843	c.672C>G	c.(670-672)ttC>ttG	p.F224L	SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F224L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	224						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATTTTGATTGGAATGATATAC	0.353000													21	76					0	0	0.001882	0	0
CNTLN	54875	broad.mit.edu	37	9	17388167	17388167	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:17388167C>G	ENST00000380647.3	+	14	2079	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	CNTLN_ENST00000425824.1_Silent_p.L665L|CNTLN_ENST00000262360.5_Silent_p.L665L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	665						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGAACAGCTCTTTAGATCTG	0.358000													14	101					0	0	0.001855	0	0
LPA	4018	broad.mit.edu	37	6	160999635	160999635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:160999635C>A	ENST00000447678.1	-	28	4511	c.4391G>T	c.(4390-4392)cGa>cTa	p.R1464L	LPA_ENST00000316300.5_Missense_Mutation_p.R1464L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527000													14	68					3.27435e-08	5.03432e-08	0.002450	1	0
PA2G4	5036	broad.mit.edu	37	12	56498590	56498590	+	Missense_Mutation	SNP	G	G	A	rs144476801		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:56498590G>A	ENST00000303305.6	+	1	488	c.69G>A	c.(67-69)atG>atA	p.M23I	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.M23I|RP11-603J24.9_ENST00000548861.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	23	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTATAAGATGGGGGGCGACA	0.607000													19	113					0	0	0.001523	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33566766	33566766	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:33566766C>A	ENST00000321505.4	+	2	2516	c.2336C>A	c.(2335-2337)aCa>aAa	p.T779K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T785K|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T785K					KIAA1549-like																		GCCGCGCTGACATCCATTACA	0.602000													30	56					7.01153e-11	1.0848e-10	0.007291	1	0
SOCS6	9306	broad.mit.edu	37	18	67993288	67993288	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:67993288A>G	ENST00000397942.3	+	2	1700	c.1384A>G	c.(1384-1386)Atc>Gtc	p.I462V	SOCS6_ENST00000582322.1_Missense_Mutation_p.I462V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	462	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAGCATTCAATCAGGGACTC	0.448000													7	41					0	0	0.004482	0	0
RAD23B	5887	broad.mit.edu	37	9	110073972	110073972	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:110073972T>C	ENST00000358015.3	+	5	858	c.507T>C	c.(505-507)ggT>ggC	p.G169G	RAD23B_ENST00000416373.2_Silent_p.G97G	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	169					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GTACATCGGGTGATTCTTCTC	0.294000								Direct reversal of damage;Nucleotide excision repair (NER)					18	18					0	0	0.007413	0	0
CRTAP	10491	broad.mit.edu	37	3	33174068	33174068	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:33174068C>A	ENST00000320954.6	+	5	1043	c.944C>A	c.(943-945)gCc>gAc	p.A315D	CRTAP_ENST00000449224.1_Missense_Mutation_p.A272D|CRTAP_ENST00000485310.1_3'UTR	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	315						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAATGCAGCCCCCTGTGCA	0.473000													57	31					7.47603e-22	1.25109e-21	0.003610	1	0
ONECUT2	9480	broad.mit.edu	37	18	55103824	55103824	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr18:55103824G>C	ENST00000491143.2	+	1	908	c.876G>C	c.(874-876)ctG>ctC	p.L292L		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	292					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TGTCGCACCTGAACGGCCTGC	0.706000													7	41					0	0	0.001984	0	0
FABP12	646486	broad.mit.edu	37	8	82441795	82441795	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:82441795T>C	ENST00000360464.4	-	2	186	c.124A>G	c.(124-126)Acc>Gcc	p.T42A	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	42							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GTACTGATGGTCACAGTGGGT	0.383000													17	87					0	0	0.007413	0	0
ZNF791	163049	broad.mit.edu	37	19	12739064	12739064	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:12739064G>A	ENST00000343325.4	+	4	883	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.E132K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E209K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCACACTGGAGAGAAACCCTA	0.413000													4	38					0	0	0.000248	0	0
SUZ12	23512	broad.mit.edu	37	17	30302527	30302527	+	Silent	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:30302527T>C	ENST00000322652.5	+	7	847	c.618T>C	c.(616-618)gtT>gtC	p.V206V	SUZ12_ENST00000580398.1_Silent_p.V183V	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	206					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAAGGCAAGTTCCCACAGGTA	0.333000			T	JAZF1	endometrial stromal tumours								22	35					0	0	0.001882	0	0
FMN2	56776	broad.mit.edu	37	1	240256799	240256799	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:240256799G>A	ENST00000319653.9	+	1	1620	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	464					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGTAGCCGCCCCGGCCAA	0.726000													7	29					0	0	0.001984	0	0
TRERF1	55809	broad.mit.edu	37	6	42236845	42236845	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:42236845T>C	ENST00000541110.1	-	5	1052	c.484A>G	c.(484-486)Atg>Gtg	p.M162V	TRERF1_ENST00000372917.4_Missense_Mutation_p.M162V|TRERF1_ENST00000372922.4_Missense_Mutation_p.M162V|TRERF1_ENST00000354325.2_Missense_Mutation_p.M162V|TRERF1_ENST00000340840.2_Missense_Mutation_p.M162V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	162					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACCTGGGCCATATTGTTGACC	0.572000													4	176					0	0	0.000248	0	0
ZNF827	152485	broad.mit.edu	37	4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:146813423C>T	ENST00000508784.1	-	3	1465	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	ZNF827_ENST00000379448.4_Missense_Mutation_p.R413H|ZNF827_ENST00000513320.1_Missense_Mutation_p.R63H			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512000													25	30					0	0	0.003330	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			21	48					0	0	0.002299	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													3	84					0	0	0.004672	0	0
OR10G4	390264	broad.mit.edu	37	11	123886869	123886869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:123886869G>T	ENST00000320891.4	+	1	588	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAACGTGATGGTCATCTTTG	0.547000													30	109					5.91797e-21	9.83662e-21	0.002445	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	60					0	0	0.001168	0	0
ADGRG6	57211	broad.mit.edu	37	6	142688950	142688950	+	Silent	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:142688950A>G	ENST00000230173.6	+	3	824	c.348A>G	c.(346-348)aaA>aaG	p.K116K	GPR126_ENST00000367609.3_Silent_p.K116K|GPR126_ENST00000367608.2_Silent_p.K116K|GPR126_ENST00000296932.8_Silent_p.K116K|GPR126_ENST00000545477.1_3'UTR	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	116	CUB.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAACTGCCAAAGGCCTATCAT	0.403000													3	62					0	0	0.004672	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671654	39671654	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr21:39671654G>A	ENST00000398930.1	+	4	825	c.471G>A	c.(469-471)gaG>gaA	p.E157E	KCNJ15_ENST00000398938.2_Silent_p.E157E|KCNJ15_ENST00000328656.3_Silent_p.E157E|KCNJ15_ENST00000398934.1_Silent_p.E157E|KCNJ15_ENST00000398932.1_Silent_p.E157E			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	157		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCTTGATTGAGATCTTCATCA	0.512000													9	47					0	0	0.004482	0	0
NOS2	4843	broad.mit.edu	37	17	26089930	26089930	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:26089930G>A	ENST00000313735.6	-	22	2927	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGAGCTGGGAAAGCAGGA	0.592000													5	5					0	0	0.000602	0	0
BAZ2B	29994	broad.mit.edu	37	2	160240133	160240133	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:160240133C>G	ENST00000392783.2	-	24	4240	c.3745G>C	c.(3745-3747)Gaa>Caa	p.E1249Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1215Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1213Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1149Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGTTTACCTTCTACCACCCAT	0.303000													6	26					0	0	0.001168	0	0
WDR19	57728	broad.mit.edu	37	4	39233472	39233472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:39233472G>T	ENST00000399820.3	+	18	2192	c.2038G>T	c.(2038-2040)Gag>Tag	p.E680*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.E520*|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	680					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGCCTGGAATGAGTTGGCCAG	0.433000													30	35					2.61193e-14	4.19958e-14	0.001786	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78316600	78316600	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78316600C>A	ENST00000409931.3	-	6	1439	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.K456N			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	456						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCGCTGAGCTTGATGATGA	0.617000													19	45					5.3912e-06	8.08681e-06	0.006122	1	0
SNHG14	104472715	broad.mit.edu	37	15	25449388	25449388	+	RNA	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:25449388G>A	ENST00000424208.1	+	0	2280				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGGCATCCAGCCCCTGGTGT	0.622000													6	51					0	0	0.001168	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926374	45926374	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:45926374C>A	ENST00000395629.2	+	9	2182	c.1852C>A	c.(1852-1854)Cag>Aag	p.Q618K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.Q628K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	628	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CGATGACTCCCAGGAGGCCAA	0.612000													13	213					2.27111e-07	3.47014e-07	0.001368	1	0
ANKRD44	91526	broad.mit.edu	37	2	197990752	197990752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990752G>A	ENST00000328737.2	-	5	272	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	ANKRD44_ENST00000337207.5_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000539527.1_Nonsense_Mutation_p.Q19*|ANKRD44_ENST00000409153.1_Nonsense_Mutation_p.Q91*|ANKRD44_ENST00000450567.1_Nonsense_Mutation_p.Q66*|ANKRD44_ENST00000282272.8_Nonsense_Mutation_p.Q83*|ANKRD44_ENST00000409919.1_Nonsense_Mutation_p.Q91*			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	91							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAAAACCTGTACTGCTTCC	0.463000													27	94					0	0	0.005443	0	0
STC1	6781	broad.mit.edu	37	8	23702400	23702400	+	Silent	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:23702400A>C	ENST00000290271.2	-	4	910	c.627T>G	c.(625-627)gcT>gcG	p.A209A	STC1_ENST00000524323.1_Silent_p.A140A	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	209					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTTGAAGTCAGCTCGTGGGT	0.552000													19	91					0	0	0.007413	0	0
ALAS2	212	broad.mit.edu	37	X	55054214	55054214	+	Silent	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chrX:55054214T>A	ENST00000396198.3	-	2	112	c.27A>T	c.(25-27)ggA>ggT	p.G9G	ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000330807.5_Intron	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	0					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TCTTGTTCCATCCCAGAGCAA	0.537000													12	18					0	0	0.001368	0	0
RNF213	57674	broad.mit.edu	37	17	78337076	78337076	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78337076G>A	ENST00000582970.1	+	40	11673	c.11530G>A	c.(11530-11532)Gaa>Aaa	p.E3844K	RNF213_ENST00000508628.2_Missense_Mutation_p.E3893K|RNF213_ENST00000336301.6_Missense_Mutation_p.E1917K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCCTGATGGAAGCCCGTTG	0.567000													18	87					0	0	0.006122	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899838	112899838	+	Silent	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:112899838C>A	ENST00000374530.3	+	8	2194	c.2014C>A	c.(2014-2016)Cgg>Agg	p.R672R	AKAP2_ENST00000434623.2_Silent_p.R530R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R672R|AKAP2_ENST00000374525.1_Silent_p.R530R|AKAP2_ENST00000259318.7_Silent_p.R441R|AKAP2_ENST00000510514.5_Silent_p.R672R|AKAP2_ENST00000555236.1_Silent_p.R672R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		441							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TACGAGCGCCCGGGCTGTCCT	0.532000													43	79					6.4771e-29	1.09135e-28	0.002522	1	0
NEU1	4758	broad.mit.edu	37	6	31828383	31828383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:31828383G>A	ENST00000375631.4	-	4	760	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	211						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CGGCCCTTCCGTGGCTCCCGC	0.607000													21	79					0	0	0.008871	0	0
NCAPH	23397	broad.mit.edu	37	2	97024809	97024809	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:97024809G>T	ENST00000455200.1	+	10	1497	c.1202G>T	c.(1201-1203)gGa>gTa	p.G401V	NCAPH_ENST00000240423.4_Missense_Mutation_p.G412V|NCAPH_ENST00000427946.1_Missense_Mutation_p.G276V			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	412					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTTGGGGATGGAGACATCAGG	0.433000													12	76					5.50884e-06	8.21318e-06	0.001368	1	0
XIST	7503	broad.mit.edu	37	X	73064268	73064268	+	RNA	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chrX:73064268G>C	ENST00000429829.1	-	0	8320					NR_001564.2																						GCCAAGCAAAGAGGCCTCAGT	0.423000													8	17					0	0	0.003080	0	0
DGKB	1607	broad.mit.edu	37	7	14188824	14188824	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:14188824C>G	ENST00000403951.2	-	26	2766	c.2347G>C	c.(2347-2349)Ggc>Cgc	p.G783R	DGKB_ENST00000399322.3_Missense_Mutation_p.G783R|DGKB_ENST00000407950.1_Missense_Mutation_p.G775R|DGKB_ENST00000444700.2_Missense_Mutation_p.G764R|DGKB_ENST00000402815.1_Missense_Mutation_p.G782R|DGKB_ENST00000258767.5_Missense_Mutation_p.G783R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	783					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)	GGAGGCGGGCCCATCAGCATT	0.393000													10	101					0	0	0.006214	0	0
KAT6A	7994	broad.mit.edu	37	8	41791310	41791310	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:41791310C>T	ENST00000396930.3	-	18	4971	c.4428G>A	c.(4426-4428)gcG>gcA	p.A1476A	KAT6A_ENST00000406337.1_Silent_p.A1476A|KAT6A_ENST00000265713.2_Silent_p.A1476A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1476					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TATGTTCTGACGCATGACAGT	0.562000													30	79					0	0	0.001786	0	0
C3orf17	25871	broad.mit.edu	37	3	112724658	112724658	+	Missense_Mutation	SNP	G	G	A	rs143719239	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:112724658G>A	ENST00000314400.5	-	9	1620	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	C3orf17_ENST00000393857.2_Missense_Mutation_p.R341W|C3orf17_ENST00000383675.2_Missense_Mutation_p.R407W	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	477						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GCACTCTTCCGAGTCCCTTGA	0.433000													8	62					0	0	0.004482	0	0
THAP4	51078	broad.mit.edu	37	2	242542453	242542453	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:242542453C>G	ENST00000407315.1	-	4	1873	c.1442G>C	c.(1441-1443)aGa>aCa	p.R481T	THAP4_ENST00000402545.1_Missense_Mutation_p.R69T|THAP4_ENST00000402136.1_Missense_Mutation_p.R69T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	481							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCCACACTCTCTGTGCATCGG	0.632000													20	47					0	0	0.001882	0	0
EPS15	2060	broad.mit.edu	37	1	51873905	51873905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:51873905G>C	ENST00000371733.3	-	15	1471	c.1375C>G	c.(1375-1377)Caa>Gaa	p.Q459E	EPS15_ENST00000396122.4_Missense_Mutation_p.Q136E|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	459					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCTGTTTCTTGCTGTAGACGG	0.448000			T	MLL	ALL								24	81					0	0	0.002299	0	0
CSHL1	1444	broad.mit.edu	37	17	61988275	61988275	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:61988275G>T	ENST00000392824.4	-	2	81	c.20C>A	c.(19-21)aCg>aAg	p.T7K	CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Missense_Mutation_p.T7K|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.T7K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	7						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGCAGGGACGTCCGGGAGCC	0.582000													12	38					9.05144e-12	1.43655e-11	0.001855	1	0
NLRC3	197358	broad.mit.edu	37	16	3614104	3614104	+	RNA	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:3614104G>A	ENST00000301749.7	-	0	1239				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCCACCAGGCCCCCTGGGA	0.592000													18	34					0	0	0.007413	0	0
PROS1	5627	broad.mit.edu	37	3	93603601	93603601	+	Missense_Mutation	SNP	G	G	C	rs5017714		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:93603601G>C	ENST00000394236.3	-	12	1779	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	PROS1_ENST00000407433.1_Missense_Mutation_p.S357C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	488	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGCAATTCCAGAACCAGGATA	0.313000													7	40					0	0	0.003080	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512409	167512409	+	Splice_Site	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr3:167512409G>T	ENST00000295777.5	+	5	1109	c.676_splice	c.e5-1	p.G226_splice	SERPINI1_ENST00000446050.2_Splice_Site_p.G226_splice	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	226					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTTTTTAGGGGAATTTAGTG	0.403000													17	30					2.35188e-11	3.68511e-11	0.006122	1	0
GRIN3A	116443	broad.mit.edu	37	9	104335610	104335610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:104335610G>T	ENST00000361820.3	-	9	3794	c.3194C>A	c.(3193-3195)gCa>gAa	p.A1065E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1065					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)	TAGGGAGTCTGCTTTCCCATT	0.567000													40	69					5.71845e-15	9.31615e-15	0.005524	1	0
ANKRD44	91526	broad.mit.edu	37	2	197990126	197990126	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990126G>T	ENST00000328737.2	-	6	530	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.L152M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.L105M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.L177M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.L152M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L169M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.L177M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	177							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCCCAGTGCAGAGCACGCCGG	0.428000													31	91					7.11191e-15	1.15101e-14	0.002836	1	0
ANKRD17	26057	broad.mit.edu	37	4	73956816	73956816	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:73956816C>G	ENST00000358602.4	-	29	6645	c.6529G>C	c.(6529-6531)Gct>Cct	p.A2177P	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1926P|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2064P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2177					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTCTAATAGCAGGGGTTTCC	0.507000													35	132					0	0	0.002836	0	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)		TTCCTCTGTGCGCCGGTCTCT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	40					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141528566	141528566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:141528566G>A	ENST00000389484.3	-	34	6481	c.5510C>T	c.(5509-5511)tCc>tTc	p.S1837F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1837	EGF-like 4.				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)		TAGTTGGCAGGAATTGCTGCC	0.303000										TSP Lung(27;0.18)			10	23					0	0	0.000978	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703589	65703589	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:65703589C>T	ENST00000352385.2	-	2	399	c.190G>A	c.(190-192)Gct>Act	p.A64T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	64	Ig-like C2-type 1.|Poly-Ala.					integral to membrane|plasma membrane		p.A64T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGGTCCAGCGGCAGCAGCC	0.642000													15	30					0	0	0.003163	0	0
CDCP2	200008	broad.mit.edu	37	1	54607036	54607036	+	Silent	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:54607036C>T	ENST00000371330.1	-	3	1345	c.498G>A	c.(496-498)ccG>ccA	p.P166P	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	166	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCATGCTGTTCGGGTAGTTGT	0.607000													22	20					0	0	0.001882	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490555	20490555	+	RNA	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:20490555C>A	ENST00000555186.1	+	0	535					NR_038836.1																						GCATGTTTTACAACAGAAGAA	0.448000													28	449					5.45727e-16	8.94992e-16	0.008361	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:106508473C>T	ENST00000359195.3	+	2	777	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A156V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A156V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	156					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682000													4	25					0	0	0.001168	0	0
ZNF846	162993	broad.mit.edu	37	19	9869059	9869059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:9869059C>T	ENST00000397902.2	-	6	1107	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	ZNF846_ENST00000588267.1_Missense_Mutation_p.G103R|ZNF846_ENST00000592859.1_Missense_Mutation_p.G103R|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGGCTTTCCCACATTCCTTA	0.383000													14	40					0	0	0.003163	0	0
RNF213	57674	broad.mit.edu	37	17	78269374	78269374	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:78269374G>C	ENST00000582970.1	+	10	1916	c.1773G>C	c.(1771-1773)tgG>tgC	p.W591C	RNF213_ENST00000508628.2_Missense_Mutation_p.W640C|RNF213_ENST00000456466.1_Missense_Mutation_p.W591C|RNF213_ENST00000319921.4_Missense_Mutation_p.W591C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	591										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATACCTGTGGCAACATCTGA	0.517000													11	30					0	0	0.008291	0	0
ISL1	3670	broad.mit.edu	37	5	50685739	50685739	+	Silent	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:50685739C>G	ENST00000230658.7	+	4	1323	c.738C>G	c.(736-738)ctC>ctG	p.L246L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L246L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	246	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGAAGCAACTCCAGCAGCAGC	0.582000													6	22					0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47915768	47915768	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:47915768G>A	ENST00000289672.2	-	23	3761	c.3711C>T	c.(3709-3711)caC>caT	p.H1237H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1237	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTACAAAGTGTGTTTGGAGG	0.418000													7	36					0	0	0.001984	0	0
ZNF766	90321	broad.mit.edu	37	19	52794352	52794352	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:52794352G>A	ENST00000439461.1	+	4	1351	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	ZNF766_ENST00000593612.1_Silent_p.E451E|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.E451E	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ACACTGGAGAGAAACCTTACA	0.413000													8	103					0	0	0.003080	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227862	112227862	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:112227862A>T	ENST00000391338.1	+	1	550	c.526A>T	c.(526-528)Aat>Tat	p.N176Y	REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						GGATCGAGCTAATTGTCCCTT	0.413000													24	68					0	0	0.003330	0	0
PRLR	5618	broad.mit.edu	37	5	35070274	35070274	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:35070274C>T	ENST00000382002.5	-	7	1063	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PRLR_ENST00000348262.3_Missense_Mutation_p.G213R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.G213R|PRLR_ENST00000513753.1_Missense_Mutation_p.G213R|PRLR_ENST00000231423.3_Missense_Mutation_p.G213R|PRLR_ENST00000397391.3_Missense_Mutation_p.G142R|PRLR_ENST00000542609.1_Missense_Mutation_p.G213R|PRLR_ENST00000511486.1_Missense_Mutation_p.G112R|PRLR_ENST00000342362.5_Missense_Mutation_p.G112R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	213	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCCAGTATCCATGGTCTGGT	0.448000													14	55					0	0	0.001855	0	0
RASIP1	54922	broad.mit.edu	37	19	49224214	49224214	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:49224214G>A	ENST00000222145.4	-	12	2937	c.2733C>T	c.(2731-2733)atC>atT	p.I911I		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	911					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGGGGGAGGATGAGGGGCG	0.642000													7	29					0	0	0.001984	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951885	30951885	+	Silent	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr22:30951885A>G	ENST00000402321.1	-	3	644	c.327T>C	c.(325-327)ccT>ccC	p.P109P	GAL3ST1_ENST00000406955.1_Silent_p.P109P|GAL3ST1_ENST00000406361.1_Silent_p.P109P|GAL3ST1_ENST00000402369.1_Silent_p.P109P|GAL3ST1_ENST00000401975.1_Silent_p.P109P|GAL3ST1_ENST00000443111.2_Silent_p.P109P|GAL3ST1_ENST00000338911.5_Silent_p.P109P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	109					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGCGGCCGTTAGGGAAGGCGA	0.597000													3	133					0	0	0.000248	0	0
MYEF2	50804	broad.mit.edu	37	15	48441469	48441469	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:48441469G>C	ENST00000324324.7	-	15	1757	c.1478C>G	c.(1477-1479)gCt>gGt	p.A493G	MYEF2_ENST00000267836.6_Missense_Mutation_p.A469G	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	493	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCCAGTATAGCTCCTATACC	0.488000													19	96					0	0	0.006122	0	0
TNC	3371	broad.mit.edu	37	9	117783505	117783505	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr9:117783505G>C	ENST00000350763.4	-	28	6948	c.6537C>G	c.(6535-6537)atC>atG	p.I2179M	TNC_ENST00000423613.2_Missense_Mutation_p.I1906M|TNC_ENST00000346706.3_Missense_Mutation_p.I1633M|TNC_ENST00000345230.3_Missense_Mutation_p.I1542M|TNC_ENST00000535648.1_Missense_Mutation_p.I1724M|TNC_ENST00000341037.4_Missense_Mutation_p.I1997M|TNC_ENST00000537320.1_Missense_Mutation_p.I1542M|TNC_ENST00000542877.1_Missense_Mutation_p.I1816M|TNC_ENST00000340094.3_Missense_Mutation_p.I1815M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2179	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCAAACTGGATTGAGTGTT	0.478000													15	80					0	0	0.004990	0	0
PCDH15	65217	broad.mit.edu	37	10	55912869	55912869	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:55912869G>T	ENST00000373965.2	-	15	2190	c.1796C>A	c.(1795-1797)gCa>gAa	p.A599E	PCDH15_ENST00000395446.1_Missense_Mutation_p.A592E|PCDH15_ENST00000320301.6_Missense_Mutation_p.A592E|PCDH15_ENST00000373955.1_Missense_Mutation_p.A592E|PCDH15_ENST00000409834.1_Missense_Mutation_p.A203E|PCDH15_ENST00000395430.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A592E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A597E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A592E|PCDH15_ENST00000373957.3_Missense_Mutation_p.A570E|PCDH15_ENST00000395445.1_Missense_Mutation_p.A599E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A555E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A592E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A570E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	592	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTCGCTCTGCAGGAGGAGC	0.458000										HNSCC(58;0.16)			12	47					5.16669e-11	8.04433e-11	0.000978	1	0
BTBD2	55643	broad.mit.edu	37	19	1993166	1993166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:1993166G>C	ENST00000255608.4	-	3	553	c.537C>G	c.(535-537)taC>taG	p.Y179*	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	179	BTB.					cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		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)		CCTCGTCCGAGTAGAGAAACC	0.647000													5	24					0	0	0.000602	0	0
CTU2	348180	broad.mit.edu	37	16	88776402	88776402	+	Missense_Mutation	SNP	G	G	A	rs149997219	byFrequency	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr16:88776402G>A	ENST00000567949.1	+	3	209	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	CTU2_ENST00000378384.3_Intron|CTU2_ENST00000312060.5_Missense_Mutation_p.R67Q|CTU2_ENST00000453996.2_Missense_Mutation_p.R67Q			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	67					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCAAGAACCGGCTCATCTTT	0.612000													42	68					0	0	0.003214	0	0
CEP57	9702	broad.mit.edu	37	11	95564382	95564382	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr11:95564382A>G	ENST00000325542.5	+	11	1703	c.1465A>G	c.(1465-1467)Aat>Gat	p.N489D	CEP57_ENST00000325486.5_Missense_Mutation_p.N463D|CEP57_ENST00000537677.1_Missense_Mutation_p.N462D|CEP57_ENST00000541150.1_Missense_Mutation_p.N480D	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	489	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGCATACAGAATTCATTACA	0.343000									Mosaic Variegated Aneuploidy Syndrome				17	8					0	0	0.004990	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728196	20728196	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:20728196G>A	ENST00000427401.4	-	4	907	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	271					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTGTAGTAAGGTTAGAGGAGC	0.413000													3	25					0	0	0.004672	0	0
IREB2	3658	broad.mit.edu	37	15	78758639	78758639	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr15:78758639G>C	ENST00000258886.8	+	5	586	c.437G>C	c.(436-438)gGa>gCa	p.G146A	IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Missense_Mutation_p.G146A	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	146							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CCAAATCCTGGAGGTGGTGAC	0.433000													4	35					0	0	0.000602	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990618	197990618	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990618G>A	ENST00000328737.2	-	5	406	c.330C>T	c.(328-330)gtC>gtT	p.V110V	ANKRD44_ENST00000337207.5_Silent_p.V110V|ANKRD44_ENST00000539527.1_Silent_p.V63V|ANKRD44_ENST00000409153.1_Silent_p.V135V|ANKRD44_ENST00000450567.1_Silent_p.V110V|ANKRD44_ENST00000282272.8_Silent_p.V127V|ANKRD44_ENST00000409919.1_Silent_p.V135V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	135							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGGTCGGAGACATTGACAC	0.557000													29	125					0	0	0.006320	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670431	55670431	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:55670431C>G	ENST00000527223.2	-	12	1827	c.1826G>C	c.(1825-1827)tGa>tCa	p.*609S	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000455045.1_Nonstop_Mutation_p.*488S|CTD-2587H24.4_ENST00000587871.1_Intron|DNAAF3_ENST00000391720.4_Nonstop_Mutation_p.*589S|DNAAF3_ENST00000524407.2_Nonstop_Mutation_p.*542S	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0																	GGGGTTGGGTCAGACTCCAGT	0.542000													6	34					0	0	0.003080	0	0
MERTK	10461	broad.mit.edu	37	2	112705062	112705062	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:112705062G>C	ENST00000295408.4	+	4	932	c.675G>C	c.(673-675)gaG>gaC	p.E225D	MERTK_ENST00000421804.2_Missense_Mutation_p.E225D|MERTK_ENST00000409780.1_Missense_Mutation_p.E49D			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	225	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCGCCTGAGCCCGTCAACA	0.532000													37	61					0	0	0.003755	0	0
NUP205	23165	broad.mit.edu	37	7	135272382	135272382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr7:135272382G>C	ENST00000285968.6	+	9	1304	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	NUP205_ENST00000440390.2_Missense_Mutation_p.Q220H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	426					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGAGTATGCAGATGGGTAATG	0.373000													6	45					0	0	0.001168	0	0
HACE1	57531	broad.mit.edu	37	6	105232953	105232953	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr6:105232953G>C	ENST00000262903.4	-	12	1592	c.1316C>G	c.(1315-1317)gCa>gGa	p.A439G	HACE1_ENST00000369125.2_Missense_Mutation_p.A439G	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	439					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGACAATCTGCACTGGCTTC	0.478000													8	37					0	0	0.003080	0	0
MIR134	406924	broad.mit.edu	37	14	101521047	101521047	+	RNA	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:101521047G>C	ENST00000385258.2	+	0	40					NR_029698.1																						TGGTTGACCAGAGGGGCATGC	0.587000													5	57					0	0	0.000602	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048078	86048078	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:86048078C>G	ENST00000414626.2	+	13	3038	c.2149C>G	c.(2149-2151)Caa>Gaa	p.Q717E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q737E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	737					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAGAGTATTCAAATAGAACT	0.318000													6	76					0	0	0.001168	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926394	106926394	+	RNA	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:106926394C>T	ENST00000434710.1	-	0	227																											ATGGTATAATCATCAAAGGTG	0.552000													18	183					0	0	0.004990	0	0
ZFAT	57623	broad.mit.edu	37	8	135602519	135602519	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr8:135602519T>A	ENST00000520727.1	-	9	2818	c.2519A>T	c.(2518-2520)aAc>aTc	p.N840I	ZFAT_ENST00000520356.1_Missense_Mutation_p.N840I|ZFAT_ENST00000520214.1_Missense_Mutation_p.N840I|ZFAT_ENST00000377838.3_Missense_Mutation_p.N852I|ZFAT_ENST00000429442.2_Missense_Mutation_p.N840I|ZFAT_ENST00000523399.1_Missense_Mutation_p.N790I|ZFAT_ENST00000517307.1_5'UTR	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCAGGATGGTTGGTCTTGAT	0.308000													17	102					0	0	0.004007	0	0
ZNF420	147923	broad.mit.edu	37	19	37619879	37619879	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37619879G>C	ENST00000337995.3	+	5	2201	c.1986G>C	c.(1984-1986)caG>caC	p.Q662H	ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAACATCAGAGAATTCATA	0.373000													7	54					0	0	0.001984	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990157	197990157	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990157G>C	ENST00000328737.2	-	6	499	c.423C>G	c.(421-423)atC>atG	p.I141M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.I141M|ANKRD44_ENST00000539527.1_Missense_Mutation_p.I94M|ANKRD44_ENST00000409153.1_Missense_Mutation_p.I166M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.I141M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.I158M|ANKRD44_ENST00000409919.1_Missense_Mutation_p.I166M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	166							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAAATGCATTGATATTTGCCC	0.438000													34	108					0	0	0.004289	0	0
CROCCP2	84809	broad.mit.edu	37	1	16955029	16955029	+	RNA	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:16955029C>T	ENST00000412962.1	-	0	410																											TTCCTCCAGCCGGTCCCGCTG	0.682000													3	6					0	0	0.004672	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803598	142803598	+	RNA	SNP	A	A	G			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:142803598A>G	ENST00000423385.1	-	0	1367																											TATGTTAACTAAGAAAATATA	0.289000													11	47					0	0	0.000978	0	0
FHDC1	85462	broad.mit.edu	37	4	153896099	153896099	+	Silent	SNP	G	G	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr4:153896099G>C	ENST00000511601.1	+	12	1844	c.1656G>C	c.(1654-1656)ctG>ctC	p.L552L	FHDC1_ENST00000260008.3_Silent_p.L552L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	552					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGGAGCTGCTGACCTTCTTGG	0.716000													3	29					0	0	0.004672	0	0
JADE2	23338	broad.mit.edu	37	5	133895524	133895524	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr5:133895524C>T	ENST00000395003.1	+	5	495	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	PHF15_ENST00000361895.2_Missense_Mutation_p.L106F|PHF15_ENST00000402835.1_Missense_Mutation_p.L106F|PHF15_ENST00000282605.4_Missense_Mutation_p.L106F	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		106					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTAGGATCCTCCCACCACT	0.632000													10	23					0	0	0.008291	0	0
ZNF567	163081	broad.mit.edu	37	19	37210699	37210699	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr19:37210699C>A	ENST00000585696.1	+	3	2210	c.980C>A	c.(979-981)aCt>aAt	p.T327N	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.T358N|ZNF567_ENST00000392163.2_Missense_Mutation_p.T327N|ZNF567_ENST00000588311.1_Missense_Mutation_p.T327N|ZNF567_ENST00000360729.4_Missense_Mutation_p.T327N			Q8N184	ZN567_HUMAN	zinc finger protein 567	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAGAACTCACACGGGA	0.448000													9	37					3.09899e-07	4.70587e-07	0.004482	1	0
ANKRD44	91526	broad.mit.edu	37	2	197990663	197990663	+	Silent	SNP	G	G	A			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:197990663G>A	ENST00000328737.2	-	5	361	c.285C>T	c.(283-285)gtC>gtT	p.V95V	ANKRD44_ENST00000337207.5_Silent_p.V95V|ANKRD44_ENST00000539527.1_Silent_p.V48V|ANKRD44_ENST00000409153.1_Silent_p.V120V|ANKRD44_ENST00000450567.1_Silent_p.V95V|ANKRD44_ENST00000282272.8_Silent_p.V112V|ANKRD44_ENST00000409919.1_Silent_p.V120V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	120							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGCACATTTGACAGCCTTGT	0.552000													41	138					0	0	0.007835	0	0
TPO	7173	broad.mit.edu	37	2	1481015	1481015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr2:1481015C>T	ENST00000345913.4	+	8	1068	c.977C>T	c.(976-978)gCg>gTg	p.A326V	TPO_ENST00000346956.3_Missense_Mutation_p.A326V|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.A326V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A326V|TPO_ENST00000329066.4_Missense_Mutation_p.A326V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	326			A -> T (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCTGGACGCGTCCACCGTG	0.701000													7	14					0	0	0.001984	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													7	70					0	0	0.004482	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124195	10124195	+	Silent	SNP	A	A	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr12:10124195A>C	ENST00000355690.4	+	2	61	c.30A>C	c.(28-30)tcA>tcC	p.S10S	CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000434319.2_5'UTR|CLEC12A_ENST00000304361.4_5'UTR	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	0						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATATTCATCAATGTCTGAAG	0.323000													28	38					0	0	0.008361	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggcfs	p.G246fs	NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341426.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													2	4	---	---	---	---					
RET	5979	broad.mit.edu	37	10	43609084	43609086	+	In_Frame_Del	DEL	GAG	GAG	-	rs121913313		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:43609084_43609086delGAG	ENST00000355710.3	+	10	2072_2074	c.1840_1842delGAG	c.(1840-1842)del	p.E616del	RET_ENST00000340058.5_In_Frame_Del_p.E616del	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	616					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.F612_C620del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGCTTCCCTGAGGAGGAGAAGT	0.640		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	21	---	---	---	---					
EXOC6	54536	broad.mit.edu	37	10	94708041	94708043	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr10:94708041_94708043delGAA	ENST00000371552.4	+	14	1335_1337	c.1306_1308delGAA	c.(1306-1308)del	p.E437del	EXOC6_ENST00000260762.6_In_Frame_Del_p.E442del|EXOC6_ENST00000443748.2_In_Frame_Del_p.E339del|EXOC6_ENST00000371547.4_In_Frame_Del_p.E458del	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	442					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGACATTTTTGAAGAAGATAATT	0.325													7	41	---	---	---	---					
CTD-2540L5.5	0	broad.mit.edu	37	14	71067484	71067504	+	RNA	DEL	GGCAGGAGAGAGGCAGGGGGT	GGCAGGAGAGAGGCAGGGGGT	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	ENST00000553982.1	-	0	294																											gggcggggcgggcaggagagaggcagggggtggaggtgcgg	0.710													4	2	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													7	32	---	---	---	---					
DNAH17	8632	broad.mit.edu	37	17	76471394	76471407	+	Frame_Shift_Del	DEL	GTGATCTGAAACAC	GTGATCTGAAACAC	-	rs5822243		TCGA-CN-6994-01A-11D-1912-08	TCGA-CN-6994-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	157b67ad-f092-4ea3-b557-0406839e6905	ecbf546c-60d0-433c-940b-68f82af90250	g.chr17:76471394_76471407delGTGATCTGAAACAC	ENST00000389840.5	-	54	8546_8559	c.8422_8435delGTGTTTCAGATCAC	c.(8422-8436)cfs	p.VFQIT2808fs	DNAH17_ENST00000585328.1_Frame_Shift_Del_p.VFQIT2817fs|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCTTGAGGGTGATCTGAAACACGTCAAGCCCG	0.584													7	105	---	---	---	---					
