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
PTPRD	5789	broad.mit.edu	37	9	8376664	8376664	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr9:8376664C>T	uc003zkk.3	-	37	5192	c.4449G>A	c.(4447-4449)acG>acA	p.T1483T	PTPRD_uc003zkp.3_Silent_p.T1077T|PTPRD_uc003zkq.3_Silent_p.T1076T|PTPRD_uc003zkr.3_Silent_p.T1067T|PTPRD_uc003zks.3_Silent_p.T1076T|PTPRD_uc022bdj.1_Silent_p.T1073T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1483	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCAAGCAGCGTTACTTGAA	0.453000										TSP Lung(15;0.13)			15	41					0	0	0.146539	0	0
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Silent	SNP	T	T	C	rs112181516		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55861308T>C	uc010rix.2	+	0	525	c.525T>C	c.(523-525)caT>caC	p.H175H		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)|p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443000													7	117					0	0	0.029380	0	0
P2RY6	5031	broad.mit.edu	37	11	73007739	73007739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:73007739C>T	uc021qnb.1	+	0	176	c.176C>T	c.(175-177)aCc>aTc	p.T59I	P2RY6_uc001otm.3_Missense_Mutation_p.T59I|P2RY6_uc001otn.3_Missense_Mutation_p.T59I|P2RY6_uc001otq.3_Missense_Mutation_p.T59I|P2RY6_uc001otr.3_Missense_Mutation_p.T59I|P2RY6_uc001ots.3_Missense_Mutation_p.T59I	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	59					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGGCCCTGACCCGCACGGCC	0.612000													53	187					0	0	0.139131	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:140811099C>T	uc021xsg.1	-	1	2243	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	497	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													5	35					0	0	0.184627	0	0
INADL	10207	broad.mit.edu	37	1	62586854	62586854	+	Splice_Site	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:62586854G>A	uc001dab.3	+	38	5005	c.4891_splice	c.e38-1	p.G1631_splice	INADL_uc001dac.3_Intron|INADL_uc009wag.3_Splice_Site_p.G415_splice	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1631					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTCTTTCAGGGTAGTCAGCAG	0.493000													44	76					0	0	0.139131	0	0
C2orf77	129881	broad.mit.edu	37	2	170537668	170537668	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:170537668G>C	uc002ufe.2	-	1	237	c.143C>G	c.(142-144)aCc>aGc	p.T48S		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	48										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TGGAATTATGGTGACCTGCTG	0.388000													38	51					0	0	0.225048	0	0
DDX43	55510	broad.mit.edu	37	6	74117789	74117789	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr6:74117789A>G	uc003pgw.3	+	8	1488	c.1144A>G	c.(1144-1146)Agt>Ggt	p.S382G	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	382	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCAAATGAGTAACTTCGT	0.388000													26	10					0	0	0.091800	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100209	9100209	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:9100209G>C	uc001apo.3	-	5	903	c.611C>G	c.(610-612)gCg>gGg	p.A204G	SLC2A5_uc010nzy.2_Missense_Mutation_p.A145G|SLC2A5_uc010nzz.2_Missense_Mutation_p.A89G|SLC2A5_uc010oaa.2_Missense_Mutation_p.A160G	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	204					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCAGCGCCGCGGGGAC	0.677000													2	6					0	0	0.115264	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733124	52733124	+	Silent	SNP	A	A	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr8:52733124A>T	uc003xqx.4	-	5	1202	c.861T>A	c.(859-861)acT>acA	p.T287T	PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393000													9	218					0	0	0.119110	0	0
WDR52	55779	broad.mit.edu	37	3	113098287	113098287	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:113098287A>G	uc003ead.2	-	16	2231	c.2164T>C	c.(2164-2166)Ttt>Ctt	p.F722L	WDR52_uc003eae.2_Missense_Mutation_p.F722L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	722	Glu-rich.							p.E721K(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctGAAATTCTTTTTCT	0.453000													31	51					0	0	0.153744	0	0
TRIM48	79097	broad.mit.edu	37	11	55035824	55035824	+	Splice_Site	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55035824A>G	uc010rid.2	+	4	642	c.556_splice	c.e4-2	p.A186_splice		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	170						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTTTTTTACAGGCTTTTGGA	0.343000													30	47					0	0	0.163468	0	0
TNN	63923	broad.mit.edu	37	1	175046809	175046809	+	Silent	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:175046809C>A	uc001gkl.1	+	1	368	c.255C>A	c.(253-255)atC>atA	p.I85I	TNN_uc010pmx.1_Silent_p.I85I	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	85					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAACATCATCTTCAGGCACA	0.607000													26	34					6.32553e-13	8.31355e-13	0.099896	1	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414201	19414201	+	RNA	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr13:19414201G>C	uc010tcj.1	-	0		c.31909C>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CAACTTCTTTGTTATATTGTT	0.318000													3	37					0	0	0.058154	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442002	20442002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:20442002C>T	uc001bcz.3	-	2	307	c.290G>A	c.(289-291)tGc>tAc	p.C97Y	PLA2G2D_uc009vpo.3_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	97					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTCACAGCAGTGGATGTT	0.547000										Multiple Myeloma(11;0.12)			28	44					0	0	0.144211	0	0
SNED1	25992	broad.mit.edu	37	2	242003028	242003028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:242003028C>T	uc002wah.1	+	17	2396	c.2396C>T	c.(2395-2397)cCg>cTg	p.P799L	SNED1_uc002wai.1_Missense_Mutation_p.P34L|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	799	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGCTCACCCGTGCAGAAAT	0.622000													4	12					0	0	0.217242	0	0
OR4X1	390113	broad.mit.edu	37	11	48285724	48285724	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:48285724C>A	uc010rht.2	+	0	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498000													33	53					1.62565e-12	2.07722e-12	0.163468	1	0
HMCN1	83872	broad.mit.edu	37	1	186045567	186045567	+	Silent	SNP	A	A	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:186045567A>T	uc001grq.1	+	53	8527	c.8298A>T	c.(8296-8298)ccA>ccT	p.P2766P	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2766	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTTTTCAGA	0.378000													12	21					0	0	0.093190	0	0
ZAN	7455	broad.mit.edu	37	7	100370923	100370923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:100370923C>T	uc003uwj.3	+	29	5606	c.5441C>T	c.(5440-5442)cCt>cTt	p.P1814L	ZAN_uc003uwk.3_Missense_Mutation_p.P1814L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.P391L|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1814	TIL 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGTGCCCACCTGGCAGCAGC	0.587000													28	35					0	0	0.108266	0	0
OR5M9	390162	broad.mit.edu	37	11	56230846	56230846	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:56230846G>C	uc010rjj.2	-	0	32	c.32C>G	c.(31-33)aCt>aGt	p.T11S	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCCAGGAGAGTAAATTCTGT	0.418000													9	37					0	0	0.047766	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								18	43					0	0	0.204396	0	0
SPECC1L	23384	broad.mit.edu	37	22	24808653	24808653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr22:24808653G>T	uc002zzw.3	+	15	3545	c.3242G>T	c.(3241-3243)aGt>aTt	p.S1081I	SPECC1L_uc002zzv.4_Missense_Mutation_p.S1081I|SPECC1L_uc011ajq.2_Missense_Mutation_p.S1042I|SPECC1L_uc021wne.1_Non-coding_Transcript|SPECC1L_uc021wnf.1_Missense_Mutation_p.S147I	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	1081	CH.				cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCAGCTGAAAGTGTCGGCATC	0.512000													4	63					1.23904e-05	1.46143e-05	0.184627	1	0
APPBP2	10513	broad.mit.edu	37	17	58556547	58556547	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:58556547C>G	uc002iys.1	-	3	753	c.465G>C	c.(463-465)gaG>gaC	p.E155D	APPBP2_uc010ddl.1_Missense_Mutation_p.E84D	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	155					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.D154Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATGAAGCATCTCATCGTGTA	0.383000													30	55					0	0	0.163468	0	0
CELSR3	1951	broad.mit.edu	37	3	48694173	48694173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:48694173G>A	uc003cuf.1	-	3	4567	c.4567C>T	c.(4567-4569)Cgc>Tgc	p.R1523C	CELSR3_uc003cul.3_Missense_Mutation_p.R1453C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1453	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCTCGCGCCGCGCGCAG	0.726000													5	7					0	0	0.029380	0	0
ABCF2	10061	broad.mit.edu	37	7	150911221	150911221	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:150911221G>A	uc003wjo.1	-	14	1902	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	ABCF2_uc003wjp.3_Silent_p.D597D	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	597	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCAGGATGTCTCCAGGCC	0.542000													26	41					0	0	0.091800	0	0
TTN	7273	broad.mit.edu	37	2	179422678	179422678	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179422678G>C	uc021vsy.1	-	276	79924	c.79699C>G	c.(79699-79701)Cta>Gta	p.L26567V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L20262V|TTN_uc021vta.1_Missense_Mutation_p.L20195V|TTN_uc021vtb.1_Missense_Mutation_p.L20070V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27494	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTCTAGCACAACAATG	0.448000													18	229					0	0	0.204396	0	0
SELP	6403	broad.mit.edu	37	1	169581487	169581487	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:169581487C>A	uc001ggi.4	-	5	994	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SELP_uc001ggh.3_Missense_Mutation_p.G145V|SELP_uc009wvr.3_Missense_Mutation_p.G310V	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	310	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTCCATACCCCCGAGGCTGT	0.488000													5	102					5.9392e-07	7.18956e-07	0.217242	1	0
ABCC3	8714	broad.mit.edu	37	17	48733300	48733300	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:48733300C>T	uc002isl.3	+	1	233	c.153C>T	c.(151-153)tgC>tgT	p.C51C	ABCC3_uc002isk.4_Silent_p.C51C	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	51					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGCCCTGCTACTTGCTCT	0.597000													9	57					0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			25	4					0	0	0.108266	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938483	30938483	+	RNA	SNP	T	T	C	rs145453249	by1000genomes	TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr15:30938483T>C	uc010azv.1	+	10		c.1293T>C			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCACCAGGCTTCTCCTTTCCC	0.463000													6	29					0	0	0.029380	0	0
VEGFC	7424	broad.mit.edu	37	4	177605151	177605151	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605151G>C	uc003ius.1	-	6	1619	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	397					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAAAATCCTGGCTCACAAGCC	0.418000													50	53					0	0	0.139131	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602346	234602346	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:234602346C>T	uc002vuv.4	+	0	835	c.696C>T	c.(694-696)ctC>ctT	p.L232L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Silent_p.L232L	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	233					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGAAGAACTCGCATCAGCTG	0.393000													13	176					0	0	0.093190	0	0
TRPV5	56302	broad.mit.edu	37	7	142609711	142609711	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:142609711G>A	uc003wby.1	-	12	1989	c.1725C>T	c.(1723-1725)atC>atT	p.I575I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	575					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATCATGGCGATGAACAAGT	0.542000													15	107					0	0	0.132662	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr19:36018407T>C	uc002oad.2	-	0	847	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000													3	4					0	0	0.115264	0	0
VEGFC	7424	broad.mit.edu	37	4	177605165	177605165	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605165T>C	uc003ius.1	-	6	1605	c.1175A>G	c.(1174-1176)cAg>cGg	p.Q392R		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	392					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACAAGCCTTCTGGCGGTTCGT	0.418000													49	55					0	0	0.139131	0	0
CLCN6	1185	broad.mit.edu	37	1	11883807	11883810	+	Frame_Shift_Del	DEL	TGAA	TGAA	-			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:11883807_11883810delTGAA	uc001ate.4	+	6	610_613	c.497_500delTGAA	c.(496-501)ctgaatfs	p.L166fs	CLCN6_uc009vnf.1_Frame_Shift_Del_p.L166fs|CLCN6_uc009vng.1_Frame_Shift_Del_p.L166fs|CLCN6_uc009vnh.1_Frame_Shift_Del_p.L166fs|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Frame_Shift_Del_p.L144fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	166					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGCTATCTGAATGGCGTAAAG	0.554													29	79	---	---	---	---					
ARHGAP22	58504	broad.mit.edu	37	10	49658514	49658514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:49658514delG	uc001jgu.3	-	8	2003	c.1706delC	c.(1705-1707)ccgfs	p.P569fs	ARHGAP22_uc001jgs.3_Frame_Shift_Del_p.P463fs|ARHGAP22_uc001jgt.3_Frame_Shift_Del_p.P553fs|ARHGAP22_uc010qgl.2_Frame_Shift_Del_p.P510fs|ARHGAP22_uc010qgm.2_Frame_Shift_Del_p.P559fs|ARHGAP22_uc001jgv.3_Frame_Shift_Del_p.P251fs|ARHGAP22_uc001jgr.3_Frame_Shift_Del_p.P270fs	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	553	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGGGGAGCGGGGAGGGCTC	0.726													2	4	---	---	---	---					
