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
FGD2	221472	broad.mit.edu	37	6	36993625	36993625	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:36993625C>A	uc010jwp.1	+	13	1687	c.1516C>A	c.(1516-1518)Ccc>Acc	p.P506T	FGD2_uc003ong.2_Missense_Mutation_p.P228T|FGD2_uc011dtv.1_Missense_Mutation_p.P134T|FGD2_uc003onj.1_Missense_Mutation_p.P83T	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	506					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.P506T(3)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CGACAACAGGCCCAACCGAGT	0.617000													5	91					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44022442	44022442	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr22:44022442G>A	uc003bdy.2	-	19	2664	c.2350C>T	c.(2350-2352)Cgc>Tgc	p.R784C	EFCAB6_uc003bdz.2_Missense_Mutation_p.R632C|EFCAB6_uc010gzi.2_Missense_Mutation_p.R632C|EFCAB6_uc010gzj.1_Missense_Mutation_p.R82C|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.R784C(2)|p.R784H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAAGGAAGCGCTCAAACTCG	0.438000													30	128					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971252	100971252	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:100971252G>A	uc011lvb.2	-	8	2028	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A	TBC1D2_uc004ayp.3_Silent_p.A156A|TBC1D2_uc004ayq.3_Silent_p.A616A|TBC1D2_uc004ayr.3_Silent_p.A398A	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	616						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.A616A(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTTGAGCTCGGCTGAGGGCA	0.667000													5	147					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719143	140719143	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:140719143G>A	uc003ljk.2	+	0	790	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R202H	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R202H(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGGACCGCGAGGAAGAG	0.592000													7	129					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	114					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349167	79349167	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:79349167C>T	uc010ysd.2	+	2	304	c.237C>T	c.(235-237)gcC>gcT	p.A79A	REG1A_uc010ffx.1_3'UTR|REG1A_uc002snz.3_Silent_p.A79A	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	79	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.A79A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCACCCAGGCCGAGGGTGCCT	0.527000													73	115					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985038	140985038	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrX:140985038C>T	uc011mwp.2	+	6	1494	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	MAGEC3_uc004fbs.3_Silent_p.F200F|MAGEC3_uc010nsj.3_Silent_p.F200F|MAGEC3_uc022cfh.1_Silent_p.F200F	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	498	MAGE 2.							p.F498F(2)|p.F200F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGATCTTCGGGAAAGCCC	0.423000													10	180					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116858374	116858374	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:116858374C>A	uc004bif.3	-	5	676	c.438G>T	c.(436-438)ctG>ctT	p.L146L	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	279	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L146L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCAAGCATCAGCTCCCCAC	0.622000													33	147					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227392	28227392	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:28227392C>T	uc003nkt.3	+	0	295	c.243C>T	c.(241-243)taC>taT	p.Y81Y	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	81								p.Y81Y(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TCCGCAACTACGCCTTCGCGT	0.587000													39	80					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7657342	7657342	+	Splice_Site	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:7657342T>G	uc002cys.2	+	10	1664	c.676_splice	c.e10+2	p.G226_splice	RBFOX1_uc010buf.1_Splice_Site_p.G226_splice|RBFOX1_uc002cyr.1_Splice_Site_p.G225_splice|RBFOX1_uc002cyt.2_Splice_Site_p.V226_splice|RBFOX1_uc010uxz.1_Splice_Site_p.G269_splice|RBFOX1_uc010uya.1_Splice_Site_p.G183_splice|RBFOX1_uc002cyv.1_Splice_Site_p.G226_splice|RBFOX1_uc010uyb.1_Splice_Site_p.G226_splice|RBFOX1_uc002cyw.2_Splice_Site_p.G246_splice|RBFOX1_uc002cyy.2_Splice_Site_p.G246_splice|RBFOX1_uc002cyx.2_Splice_Site_p.G246_splice|RBFOX1_uc010uyc.1_Splice_Site_p.V246_splice	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	226					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTATGCAGGTACAGAGTTTC	0.368000													31	187					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88650293	88650293	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:88650293A>G	uc004aol.3	-	7	1211	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_uc004aom.3_Silent_p.A335A	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	335						Golgi apparatus|integral to plasma membrane		p.A335A(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTCCCCGGCAGCTTCCTGCT	0.622000											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	180					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:38899534C>A	uc003xmr.3	+	11	1278	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	400	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding	p.N400K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGGAGGAAACTGCCTTCTTA	0.408000													7	121					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237001	160237001	+	Splice_Site	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:160237001T>C	uc003qsy.1	+	13	1035	c.996_splice	c.e13-1	p.S332_splice	PNLDC1_uc003qsx.1_Splice_Site_p.S321_splice	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	321						integral to membrane|nucleus	nucleic acid binding	p.S321S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTCCAATAGTGACTTGAATC	0.378000													5	126					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131034664	131034664	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131034664G>A	uc003kvs.1	-	10	1290	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.A355V|RAPGEF6_uc010jdm.1_Missense_Mutation_p.A338V|RAPGEF6_uc003kvu.3_Missense_Mutation_p.A383V	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.A383V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTCTGACTGGCATCAGCTGA	0.353000													7	239					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:207170939C>T	uc002vbp.2	+	4	1937	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	563							nucleic acid binding|zinc ion binding	p.R563W(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438000													27	47					0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10335297	10335297	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:10335297A>T	uc002mnl.2	-	1	396	c.285T>A	c.(283-285)tcT>tcA	p.S95S	S1PR2_uc021uos.1_Silent_p.S95S	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	95					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S95S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGTGACAGAGCCAGAGA	0.612000													9	42					0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6673970	6673970	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:6673970T>C	uc002gdn.3	+	5	758	c.516T>C	c.(514-516)tgT>tgC	p.C172C	XAF1_uc002gdm.1_Silent_p.C112C|XAF1_uc002gdo.3_Silent_p.C153C|XAF1_uc002gdp.3_Silent_p.C121C|XAF1_uc002gdq.3_Silent_p.C4C|XAF1_uc002gdr.3_Silent_p.C102C	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	172					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	p.C172C(2)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGTAAATGTTGTCCAGACT	0.348000													7	187					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000													5	23					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:61958402G>A	uc002jcl.1	-	2	340	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_uc002jcn.1_Missense_Mutation_p.T78M|GH2_uc002jco.1_Missense_Mutation_p.T93M|GH2_uc002jcm.1_Missense_Mutation_p.T93M	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	93						extracellular region	hormone activity	p.T93M(9)|p.K92R(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572000													82	364					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19041572	19041572	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:19041572T>C	uc002dfp.2	+	5	868	c.738T>C	c.(736-738)ttT>ttC	p.F246F	TMC7_uc010vao.1_Silent_p.F246F|TMC7_uc002dfq.3_Silent_p.F246F|TMC7_uc010vap.2_Silent_p.F136F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	246						integral to membrane		p.F246F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTAGCCTCTTTTACGGACATT	0.507000													7	283					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:9788936A>G	uc003bse.3	+	13	3947	c.3548A>G	c.(3547-3549)aAc>aGc	p.N1183S	BRPF1_uc003bsf.3_Missense_Mutation_p.N1189S|BRPF1_uc003bsg.3_Missense_Mutation_p.N1182S|BRPF1_uc011ati.2_Missense_Mutation_p.N1088S|OGG1_uc003bsj.3_5'Flank|OGG1_uc003bsi.3_5'Flank|OGG1_uc003bsh.3_5'Flank|OGG1_uc003bsl.3_5'Flank|OGG1_uc003bsk.3_5'Flank|OGG1_uc003bsm.3_5'Flank|OGG1_uc003bsn.3_5'Flank|OGG1_uc003bso.3_5'Flank	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	1183					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding	p.N1189S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGCAAGTCCAACATCCGCAAG	0.567000													28	124					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:125521571G>A	uc010flu.3	+	15	2744	c.2380G>A	c.(2380-2382)Gtc>Atc	p.V794I	CNTNAP5_uc002tno.3_Missense_Mutation_p.V793I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	793	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V793I(3)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAACGCCGTCTCATTTTA	0.428000													69	118					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:164908014T>C	uc003fej.4	-	1	1049	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_uc003fek.3_Missense_Mutation_p.D202G|SLITRK3_uc021xgy.1_Missense_Mutation_p.D202G	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	202						integral to membrane		p.D202G(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408000										HNSCC(40;0.11)			56	117					0	0	1	0	0
RASA4	10156	broad.mit.edu	37	7	102236573	102236573	+	Silent	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:102236573G>T	uc003vae.3	-	8	810	c.741C>A	c.(739-741)ggC>ggA	p.G247G	RASA4_uc011kla.2_Silent_p.G175G|RASA4_uc010lig.3_Silent_p.G175G|RASA4_uc003vaf.3_Silent_p.G247G|RASA4_uc011klb.2_Silent_p.G175G|RASA4_uc010lih.2_Silent_p.G55G|RASA4_uc011kld.1_Intron|AK311374_uc003vag.1_Intron	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	247					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding	p.G247G(4)		lung(1)|prostate(1)|urinary_tract(1)	3						AGCCCAGGTTGCCCCTGGAAT	0.657000													7	21					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77073870	77073870	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:77073870C>T	uc002jwv.3	+	2	348	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	ENGASE_uc002jwu.1_Missense_Mutation_p.R114C|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	114						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.R114C(2)|p.R114L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTGGCGTGTCGCCAGCCCCC	0.582000													44	69					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:170663358G>T	uc002ufk.3	+	4	583	c.409G>T	c.(409-411)Gta>Tta	p.V137L	SSB_uc002ufm.3_Missense_Mutation_p.V137L	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	137	RRM.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	p.V137L(2)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAAAGGTCAAGTACTAAATAT	0.299000													5	165					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108247662	108247662	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:108247662A>G	uc001dvk.1	-	15	1578	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_uc010ouw.1_Silent_p.Y508Y|VAV3_uc001dvl.1_Silent_p.Y332Y|VAV3_uc010oux.1_Silent_p.Y508Y	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	508					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.Y508Y(3)|p.Y508*(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGAGTCTGCATAGTCTGGTC	0.403000													3	133					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:36435954C>G	uc003tff.3	+	1	302	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ANLN_uc011kaz.2_Missense_Mutation_p.S33C|ANLN_uc003tfg.3_Missense_Mutation_p.S33C|ANLN_uc010kxe.3_Missense_Mutation_p.S33C	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	33	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.S33C(2)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTCCAAGGTCTATGACTCAT	0.473000													42	77					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:31499068G>A	uc002ecf.4	+	6	892	c.873G>A	c.(871-873)tgG>tgA	p.W291*	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	291					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.W291*(2)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTGGTACTGGTGCAGCGACC	0.721000													10	33					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584845	51584845	+	Missense_Mutation	SNP	G	G	A	rs144343467		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584845G>A	uc001jis.4	+	7	1147	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.R331Q|NCOA4_uc010qhd.2_Missense_Mutation_p.R331Q|NCOA4_uc010qhe.2_Missense_Mutation_p.R215Q|NCOA4_uc010qhf.2_Missense_Mutation_p.R149Q|NCOA4_uc001jit.3_Missense_Mutation_p.R315Q|NCOA4_uc009xoo.3_Missense_Mutation_p.R315Q	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	315					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.R331Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CATAAGCTGCGGAAGCCTGAG	0.453000			T	RET	papillary thyroid								6	165					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113657357	113657357	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:113657357A>T	uc003ynu.3	-	19	3450	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_uc003yns.3_Silent_p.V369V|CSMD3_uc003ynt.3_Silent_p.V1057V|CSMD3_uc011lhx.2_Silent_p.V993V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1097	CUB 6.					integral to membrane|plasma membrane		p.V1097V(4)|p.V1057V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTTACATCAACAGTCCATG	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	112					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:95944760C>A	uc002suk.3	+	9	1275	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	PROM2_uc002suh.2_Missense_Mutation_p.P381Q|PROM2_uc002sui.3_Missense_Mutation_p.P381Q|PROM2_uc002suj.3_Missense_Mutation_p.P35Q|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_5'Flank	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	381						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.P381Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCAGCAGCCGGAAGGGGTG	0.662000													3	99					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:15317865G>A	uc001iob.3	-	2	414	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	136						integral to membrane		p.S136L(3)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAATCCTGATACTATTTG	0.343000													19	92					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:2411659G>T	uc001aji.1	+	3	824	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	PLCH2_uc010nyz.2_5'UTR|PLCH2_uc009vle.1_5'UTR|PLCH2_uc001ajj.1_5'UTR|PLCH2_uc001ajk.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	185	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G185W(1)|p.G32W(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGACAAGAACGGGGATGGCAG	0.617000													36	100					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27565971	27565971	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:27565971G>A	uc003szf.3	-	7	1086	c.873C>T	c.(871-873)gaC>gaT	p.D291D	HIBADH_uc003szg.3_Silent_p.D242D	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	291					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.D291D(2)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TGGTAGCAGAGTCTTGTGCCA	0.468000													13	45					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131531126	131531126	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131531126C>A	uc003kwh.3	-	12	1983	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	P4HA2_uc003kwg.3_Silent_p.G471G|P4HA2_uc003kwi.3_Silent_p.G471G|P4HA2_uc003kwk.3_Silent_p.G471G|P4HA2_uc003kwl.3_Silent_p.G473G|P4HA2_uc003kwj.3_Silent_p.G471G	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	473	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.G473G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AAATTGCAGCCCCCAGATCAG	0.493000													32	79					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:55371662G>A	uc003xsb.4	+	1	556	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	118					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.V118M(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCGGCCCTTCGTGGAGGAGGC	0.687000													4	7					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32764089	32764089	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:32764089T>C	uc010ske.2	+	9	1630	c.1546T>C	c.(1546-1548)Tta>Cta	p.L516L	FGD4_uc001rlc.3_Silent_p.L489L|FGD4_uc001rky.3_Silent_p.L156L|FGD4_uc001rkz.3_Silent_p.L404L|FGD4_uc001rla.3_Silent_p.L60L|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	404	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.L404L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAAACTCTTAGAGATTTA	0.353000													4	196					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413635	68413635	+	RNA	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:68413635G>A	uc004aex.3	+	0		c.190G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CATCTAACAGGCTGGAGGTGA	0.637000													2	1					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525227	61525227	+	Silent	SNP	G	G	A	rs111520535	byFrequency	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:61525227G>A	uc002ydr.2	-	11	3204	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	DIDO1_uc002yds.2_Silent_p.S964S|DIDO1_uc002ydt.2_Silent_p.S964S|DIDO1_uc002ydu.2_Silent_p.S964S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	964					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S964S(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCCGGCCGGACACTGTGA	0.687000													4	138					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557700	21557700	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:21557700G>A	uc009zzs.3	-	4	2510	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LATS2_uc001unr.4_Silent_p.A715A	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	715	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A715A(3)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGTCCCTCTCGGCCTTGACGT	0.532000													11	332					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:77469597A>G	uc003ugs.4	+	0	151	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_uc003ugo.4_Missense_Mutation_p.I9V|PHTF2_uc003ugp.3_Missense_Mutation_p.I9V|PHTF2_uc010ldv.3_Missense_Mutation_p.I9V|PHTF2_uc003ugq.4_Missense_Mutation_p.I9V|PHTF2_uc003ugr.4_Missense_Mutation_p.I9V|PHTF2_uc003ugt.4_Missense_Mutation_p.I9V|PHTF2_uc003ugu.4_Missense_Mutation_p.I9V|PHTF2_uc022agp.1_Missense_Mutation_p.I9V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	p.I9V(3)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318000													73	125					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228858269	228858269	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:228858269G>A	uc002vpq.2	-	8	4749	c.4702C>T	c.(4702-4704)Cca>Tca	p.P1568S	SPHKAP_uc002vpp.2_Intron|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1568						cytoplasm	protein binding	p.P1568S(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGAAGATGGCATGCTTTCC	0.423000													6	14					0	0	1	0	0
VASP	7408	broad.mit.edu	37	19	46020979	46020979	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:46020979C>A	uc002pcg.3	+	1	406	c.64C>A	c.(64-66)Cga>Aga	p.R22R	VASP_uc002pci.3_Silent_p.R9R	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	22	WH1.				T cell receptor signaling pathway|axon guidance|cell junction assembly	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	SH3 domain binding|actin binding|profilin binding	p.R22R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TGGCAACAAGCGATGGCTCCC	0.617000													3	103					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149755319	149755319	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:149755319C>T	uc003lry.3	+	11	1848	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_uc003lrw.3_Silent_p.P580P|TCOF1_uc003lrz.3_Silent_p.P580P|TCOF1_uc011dch.2_Silent_p.P580P|TCOF1_uc003lrx.3_Silent_p.P503P|TCOF1_uc003lsa.3_Silent_p.P503P|TCOF1_uc011dci.1_Silent_p.P69P	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	580					skeletal system development	nucleolus	protein binding|transporter activity	p.P580P(1)|p.P503P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCAAACCCACCTCCAGTC	0.587000													51	146					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:179472383C>T	uc021vsy.1	-	225	45553	c.45328G>A	c.(45328-45330)Gtc>Atc	p.V15110I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V8805I|TTN_uc021vta.1_Missense_Mutation_p.V8738I|TTN_uc021vtb.1_Missense_Mutation_p.V8613I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16037							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCTTGACAGAAACATCC	0.428000													79	116					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:63978653G>C	uc002amp.3	-	33	6278	c.6130C>G	c.(6130-6132)Cta>Gta	p.L2044V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2044	B30.2/SPRY.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.L2044V(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCCACTAGGCAACACTGA	0.473000													7	439					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032741	41032741	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr21:41032741G>C	uc021wjj.1	+	0	255	c.255G>C	c.(253-255)atG>atC	p.M85I	B3GALT5_uc002yyb.1_Missense_Mutation_p.M85I|B3GALT5_uc002yye.2_Missense_Mutation_p.M85I|B3GALT5_uc002yyi.1_Missense_Mutation_p.M85I|B3GALT5_uc002yyj.1_Missense_Mutation_p.M85I|B3GALT5_uc002yyk.1_Missense_Mutation_p.M85I|B3GALT5_uc002yyl.1_Missense_Mutation_p.M85I|B3GALT5_uc002yym.1_Missense_Mutation_p.M85I	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	85			M -> T (in dbSNP:rs3746887).		protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.M85I(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AAGAGAGGATGGTGAAGGGAA	0.602000													4	101					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:130845793T>G	uc001uik.3	+	14	2005	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E	PIWIL1_uc001uij.2_Missense_Mutation_p.D578E	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	578	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding	p.D578E(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGTGTACAGATTGCCCTACCC	0.433000													30	76					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584846	51584846	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584846G>A	uc001jis.4	+	7	1148	c.945G>A	c.(943-945)cgG>cgA	p.R315R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Silent_p.R331R|NCOA4_uc010qhd.2_Silent_p.R331R|NCOA4_uc010qhe.2_Silent_p.R215R|NCOA4_uc010qhf.2_Silent_p.R149R|NCOA4_uc001jit.3_Silent_p.R315R|NCOA4_uc009xoo.3_Silent_p.R315R	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	315					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.R331R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATAAGCTGCGGAAGCCTGAGA	0.453000			T	RET	papillary thyroid								6	164					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840948	1840948	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1840948G>A	uc002ftp.3	-	1	187	c.168C>T	c.(166-168)agC>agT	p.S56S		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	56					axon regeneration	anchored to plasma membrane	receptor activity	p.S56S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGACGCGCTCGCTGTCCACGG	0.652000													4	54					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:41382448G>A	uc003jmm.1	-	1	394	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	98	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R98*(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443000													6	186					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:170395294T>G	uc003mba.3	+	13	1765	c.1623T>G	c.(1621-1623)tgT>tgG	p.C541W	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	541					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C541W(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGATGTTGTAATGAGAAAA	0.343000			T	TRD@	ALL								17	187					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233960	43233960	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:43233960G>A	uc002oue.3	-	3	1090	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	320	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R320C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGTAACTGCGGATGCCACCA	0.488000													7	293					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:95862980T>C	uc001vmd.4	-	4	706	c.587A>G	c.(586-588)aAt>aGt	p.N196S	ABCC4_uc010afk.3_Missense_Mutation_p.N196S|ABCC4_uc001vme.2_Missense_Mutation_p.N196S|ABCC4_uc010tih.1_Missense_Mutation_p.N121S|ABCC4_uc001vmf.2_Missense_Mutation_p.N153S|ABCC4_uc010afl.1_Missense_Mutation_p.N153S|ABCC4_uc010afm.1_Missense_Mutation_p.N209S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	196	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.N196S(4)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGACAGCAGATTGACTATCTG	0.418000													12	86					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1559946A>C	uc002fte.3	-	34	5729	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1872	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.L1872R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTACCTCCAGTGGGTCCAG	0.552000													24	40					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	rs63751304		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:48026269A>G	uc002rwd.4	+	3	1299	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	MSH6_uc002rwc.2_Missense_Mutation_p.R383G|MSH6_uc010fbj.3_Missense_Mutation_p.R81G|MSH6_uc010yoj.2_Missense_Mutation_p.R81G	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	383					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.R383G(3)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGCACAGGAGGAGGCC	0.478000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				47	110					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841663	100841663	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:100841663C>T	uc003pqj.4	-	9	1737	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SIM1_uc021zdg.1_Missense_Mutation_p.D424N|SIM1_uc010kcu.3_Missense_Mutation_p.D424N	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	424	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D424N(2)		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)		CCAGGCCTATCGGCGGGGTCC	0.597000													30	55					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:52616466T>A	uc003pay.3	-	5	605	c.455A>T	c.(454-456)aAg>aTg	p.K152M		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	152	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.K152M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CCGGCTCAGCTTGTTGCCAAC	0.532000													63	146					0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100477359	100477359	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:100477359C>T	uc003huy.3	-	4	752	c.439G>A	c.(439-441)Gga>Aga	p.G147R	RG9MTD2_uc003huz.4_Missense_Mutation_p.G147R|RG9MTD2_uc003hva.4_Missense_Mutation_p.G147R	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	147							methyltransferase activity	p.G147R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		AGCTGGCCTCCGTGGCTTGTC	0.313000													6	102					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26853885	26853885	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr22:26853885G>T	uc003acl.3	-	12	2554	c.1895C>A	c.(1894-1896)gCc>gAc	p.A632D	HPS4_uc003aci.3_Missense_Mutation_p.A627D|HPS4_uc003acj.3_Missense_Mutation_p.A496D|HPS4_uc003ack.3_Missense_Mutation_p.A423D|HPS4_uc003acn.3_Missense_Mutation_p.A478D|HPS4_uc003ach.3_Missense_Mutation_p.A367D	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	632					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.A632D(4)|p.A645D(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGGCTGACGGCCTGGAGGAA	0.592000									Hermansky-Pudlak syndrome				8	70					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:26224957A>T	uc003sxq.3	+	3	1911	c.1639A>T	c.(1639-1641)Atc>Ttc	p.I547F		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	547					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I547F(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCTTTGCATATCCCTTTTTC	0.413000													5	268					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:54803046G>C	uc002qfd.3	-	3	723	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	210	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.P211A(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCACTGGGTAGAGACCAC	0.617000													4	77					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:123900990G>A	uc001pzp.1	+	0	661	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V221I(2)|p.I220M(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542000													11	183					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89206847	89206848	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:89206847_89206848insA	uc001dmn.3	+	1	567_568	c.225_226insA	c.(223-228)gataaafs	p.D75fs	PKN2_uc010osp.2_Frame_Shift_Ins_p.D75fs|PKN2_uc010osq.2_Intron|PKN2_uc009wcv.3_Frame_Shift_Ins_p.D75fs	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	75					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCACAACAGATAAAAAAAGTTT	0.307													40	75	---	---	---	---					
INTU	27152	broad.mit.edu	37	4	128577790	128577791	+	Splice_Site	INS	-	GT	GT			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:128577790_128577791insGT	uc003ifk.2	+	3	786	c.683_splice	c.e3-1	p.G228_splice	INTU_uc011cgq.2_Splice_Site	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	228	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTGGTTTCAGGTGATGTCCTT	0.366													58	114	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111754715	111754716	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:111754715_111754716delGA	uc003kpv.1	-	0	295_296	c.21_22delTC	c.(19-24)gttccgfs	p.V7fs	EPB41L4A_uc003kpw.1_Frame_Shift_Del_p.V7fs|FLJ11235_uc003kpx.2_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	7						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTCTTCCGGAACAGCGCAGA	0.594													17	62	---	---	---	---					
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:67488452_67488453insT	uc003xwj.3	-	9	1666_1667	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Ins_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Ins_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													7	460	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525655	63525656	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:63525655_63525656insA	uc001nxq.3	+	8	3268_3269	c.3081_3082insA	c.(3079-3084)gccaaafs	p.A1027fs	RTN3_uc001nxp.3_Frame_Shift_Ins_p.Q212fs|RTN3_uc009yov.3_Frame_Shift_Ins_p.A915fs|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Frame_Shift_Ins_p.P146fs|RTN3_uc001nxm.3_Frame_Shift_Ins_p.A250fs|RTN3_uc001nxn.3_Frame_Shift_Ins_p.A1008fs|RTN3_uc001nxo.3_Frame_Shift_Ins_p.A231fs	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	1027	Interaction with FADD.|Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGGAATCGCCAAAAAAAAGGC	0.337													7	119	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28387490	28387490	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:28387490delC	uc001zbj.3	-	75	11700	c.11594delG	c.(11593-11595)tgtfs	p.C3865fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3865					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCTCGGCACAGCAAGGCAG	0.547													8	51	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	-	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:30732660_30732666delCAGGCTA	uc002dze.1	+	20	3789_3795	c.3404_3410delCAGGCTA	c.(3403-3411)ccaggctacfs	p.P1135fs	SRCAP_uc021tgn.1_Frame_Shift_Del_p.P1135fs|SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P992fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1135	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGTGCCACCAGGCTACACCTTCCCT	0.623													10	202	---	---	---	---					
C19orf53	28974	broad.mit.edu	37	19	13888971	13888971	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:13888971delA	uc002mxg.3	+	2	294	c.259delA	c.(259-261)aaafs	p.K87fs		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA.	87										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGCCAAGAAGAAAGGGGCAGC	0.597													26	66	---	---	---	---					
