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
LRRC36	55282	broad.mit.edu	37	16	67397504	67397504	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:67397504G>A	ENST00000329956.6	+	6	608	c.589G>A	c.(589-591)Gga>Aga	p.G197R	LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G76R|LRRC36_ENST00000563189.1_Missense_Mutation_p.G76R	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	197										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCAAACAAAGGACTTTTTAT	0.403000													21	35					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48692763	48692763	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:48692763C>T	ENST00000352832.5	+	25	5071	c.4699C>T	c.(4699-4701)Cgg>Tgg	p.R1567W	CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1608W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1556W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1556W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1544W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1583W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1549W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1578W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1601W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1578W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1560W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1567W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1601					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCCGCTTCCGGCTCCTCGT	0.622000													16	48					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28825739	28825739	+	Missense_Mutation	SNP	C	C	T	rs148017311	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:28825739C>T	ENST00000422425.2	+	38	2736	c.2692C>T	c.(2692-2694)Cgg>Tgg	p.R898W	PLB1_ENST00000327757.5_Missense_Mutation_p.R909W|PLB1_ENST00000541605.1_5'UTR	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	909	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CACTATCATGCGGCAGGTGTT	0.607000													22	126					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538159	1538159	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:1538159C>T	ENST00000389470.4	-	11	1697	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	INTS1_ENST00000404767.3_Silent_p.L438L			Q8N201	INT1_HUMAN	integrator complex subunit 1	438					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGTGGTGCCCAGGTTGTCCT	0.627000													5	46					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9388585	9388585	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:9388585G>A	ENST00000378501.2	+	18	1648	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E557K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E557K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E545K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E545K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E545K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	545					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTAGAAGATGAGCAGGCGTG	0.428000													26	98					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129060290	129060290	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:129060290G>A	ENST00000394422.3	+	14	2046	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R621H|UTP14A_ENST00000371051.5_Missense_Mutation_p.R619H|UTP14A_ENST00000371042.3_Missense_Mutation_p.R505H	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	673					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AATGAGAAGCGCAACATCCAC	0.458000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	35					0	0	1	0	0
PSMB4	5692	broad.mit.edu	37	1	151372586	151372586	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:151372586C>T	ENST00000290541.6	+	2	324	c.270C>T	c.(268-270)gtC>gtT	p.V90V		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTATGCGAGTCAACAACAGTA	0.537000													36	193					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963365	100963365	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:100963365C>A	ENST00000193391.7	-	13	1997	c.1810G>T	c.(1810-1812)Ggg>Tgg	p.G604W		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	604					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGCCCAGACCCTGAACCTAAA	0.463000													21	113					2.32416e-17	2.49017e-17	1	1	0
OCA2	4948	broad.mit.edu	37	15	28090163	28090163	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:28090163C>T	ENST00000354638.3	-	23	2529	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	OCA2_ENST00000353809.5_Missense_Mutation_p.V768M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	792					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTGCACACACGACGTTTGCC	0.403000									Oculocutaneous Albinism				11	26					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412777	105412777	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:105412777G>C	ENST00000333244.5	-	7	9130	c.9011C>G	c.(9010-9012)tCt>tGt	p.S3004C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3004						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGGCGCAGACACATCCAC	0.592000													91	436					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135946421	135946421	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:135946421A>G	ENST00000372080.4	+	11	1557	c.1541A>G	c.(1540-1542)tAc>tGc	p.Y514C	CEL_ENST00000351304.7_Missense_Mutation_p.Y445C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	511					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGAACCCTACACTACGGAA	0.612000													8	62					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45896398	45896398	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:45896398G>T	ENST00000007414.3	-	5	514	c.323C>A	c.(322-324)gCc>gAc	p.A108D	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A108D	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	108	PH.				lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AATGCGCTGGGCCTTTTTGTT	0.562000													6	79					0.00198382	0.00202056	1	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43737512	43737512	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:43737512A>C	ENST00000377564.3	+	3	775	c.382A>C	c.(382-384)Agc>Cgc	p.S128R	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S128R	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	128	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCGAGAAGAAAGCATCTGGGT	0.413000													18	123					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498681	5498681	+	Silent	SNP	G	G	A	rs139773413		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:5498681G>A	ENST00000355029.4	+	12	1657	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	NET1_ENST00000380359.3_Silent_p.S451S|NET1_ENST00000542715.1_Silent_p.S324S	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	505					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCTTCCAGTCGGCAGGCAGTC	0.612000													29	75					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90040955	90040955	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr5:90040955G>A	ENST00000405460.2	+	51	10738	c.10642G>A	c.(10642-10644)Gct>Act	p.A3548T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTACCTTCTGCTTATGATGT	0.403000													73	94					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079725	42079725	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:42079725G>A	ENST00000395925.3	-	7	1024	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	314					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AAGGAGTTGGGAGACGTCCTT	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				47	41					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088212	42088212	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:42088212G>A	ENST00000395925.3	-	5	641	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGAGACTCGGAAGCAGCAGT	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	87					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3113558	3113558	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:3113558C>T	ENST00000259808.4	+	11	2299	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	RIPK1_ENST00000380409.2_Silent_p.Y667Y|RIPK1_ENST00000541791.1_Silent_p.Y621Y			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	667	Death.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCTTGATTTACGTCAGCCAGA	0.557000													3	47					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76741101	76741101	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:76741101T>G	ENST00000393262.3	-	2	747	c.664A>C	c.(664-666)Aat>Cat	p.N222H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	222					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACACCAACATTCAACTCTACA	0.403000									Bardet-Biedl syndrome				8	19					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	11					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47380496	47380496	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:47380496G>A	ENST00000378538.3	-	4	614	c.392C>T	c.(391-393)tCa>tTa	p.S131L	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.S131L|SPI1_ENST00000227163.4_Missense_Mutation_p.S132L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	131					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCTCATCTGAGCTGGGCTG	0.692000													5	12					0	0	1	0	0
DAZAP2	9802	broad.mit.edu	37	12	51634129	51634129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:51634129C>T	ENST00000412716.3	+	2	632	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	DAZAP2_ENST00000439799.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000425012.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000604900.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Nonsense_Mutation_p.Q6*			Q15038	DAZP2_HUMAN	DAZ associated protein 2	6							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						TCTTTCAGGTCAATATCCAAC	0.493000													9	79					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845619	24845619	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:24845619C>A	ENST00000413692.2	+	10	2509	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T	NFATC4_ENST00000553879.1_Missense_Mutation_p.P656T|NFATC4_ENST00000250373.4_Missense_Mutation_p.P726T|NFATC4_ENST00000424781.2_Missense_Mutation_p.P739T|NFATC4_ENST00000422617.3_Missense_Mutation_p.P714T|NFATC4_ENST00000555167.1_Missense_Mutation_p.P261T|NFATC4_ENST00000555590.1_Missense_Mutation_p.P739T|NFATC4_ENST00000554591.1_Missense_Mutation_p.P789T|NFATC4_ENST00000553469.1_Missense_Mutation_p.P758T|NFATC4_ENST00000556169.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554050.1_Missense_Mutation_p.P726T|NFATC4_ENST00000554344.1_Missense_Mutation_p.P656T|NFATC4_ENST00000554661.1_Missense_Mutation_p.P656T|NFATC4_ENST00000555802.1_Missense_Mutation_p.P14T|NFATC4_ENST00000539237.2_Missense_Mutation_p.P758T|NFATC4_ENST00000557767.1_Missense_Mutation_p.P14T|NFATC4_ENST00000553708.1_Missense_Mutation_p.P726T|NFATC4_ENST00000557451.1_Missense_Mutation_p.P656T|NFATC4_ENST00000555453.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554966.1_Missense_Mutation_p.P739T|NFATC4_ENST00000556759.1_Missense_Mutation_p.P261T|NFATC4_ENST00000555393.1_Missense_Mutation_p.P14T|NFATC4_ENST00000556279.1_Missense_Mutation_p.P758T|NFATC4_ENST00000554473.1_Missense_Mutation_p.P261T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	726	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCTCCTATCCCCATGAAGA	0.607000													15	116					0.0383953	0.0386294	1	1	0
ZNF23	7571	broad.mit.edu	37	16	71483481	71483481	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:71483481G>A	ENST00000393539.2	-	6	1260	c.447C>T	c.(445-447)atC>atT	p.I149I	RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Silent_p.I149I|ZNF23_ENST00000357254.4_Silent_p.I149I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.I91I|ZNF23_ENST00000564528.1_Silent_p.I91I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TATCAAAGCTGATGGATTTCC	0.413000													15	73					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397466	40397466	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:40397466G>A	ENST00000542756.1	-	6	2001	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.H657Y|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.H660Y|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.H665Y|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.H665Y|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	665					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTCTAGCATGAACCTTCCTG	0.418000													11	28					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2143662	2143662	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:2143662G>A	ENST00000262304.4	-	37	11107	c.10899C>T	c.(10897-10899)agC>agT	p.S3633S	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3632S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3633					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACAGCCGGGCTCTCTACCA	0.642000													3	8					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291075	62291075	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:62291075G>C	ENST00000258991.3	-	2	587	c.503C>G	c.(502-504)tCt>tGt	p.S168C	TEX2_ENST00000583097.1_Missense_Mutation_p.S168C|TEX2_ENST00000584379.1_Missense_Mutation_p.S168C			Q8IWB9	TEX2_HUMAN	testis expressed 2	168					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGAGACTTAGAAGGAGAGGA	0.557000													8	48					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067886	52067886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:52067886C>T	ENST00000361781.2	-	10	1877	c.918G>A	c.(916-918)tgG>tgA	p.W306*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W137*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	312					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCCAGTGATACCACCAGAGTC	0.468000													16	70					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704527	117704527	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:117704527C>T	ENST00000368508.3	-	16	2647	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E812K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	817					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGGAACTTTCCCCATTTAGT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								25	108					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502000										HNSCC(4;0.00038)			27	34					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9810760	9810760	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:9810760C>T	ENST00000256190.8	-	35	4965	c.4828G>A	c.(4828-4830)Gac>Aac	p.D1610N	SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1610					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCAGCCAGGTCAGAGTCTTCG	0.542000													37	65					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4110621	4110621	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:4110621C>T	ENST00000262948.5	-	3	589	c.336G>A	c.(334-336)cgG>cgA	p.R112R	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.R15R	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	112	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTGGTTCCGGATGGCCG	0.602000													12	58					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39801217	39801217	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:39801217C>G	ENST00000373272.2	+	26	3467	c.3062C>G	c.(3061-3063)tCc>tGc	p.S1021C	PLCG1_ENST00000244007.3_Missense_Mutation_p.S1021C|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.S1021C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1021	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGGATTCCTCCAACTACGAT	0.557000													9	39					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61192399	61192399	+	Silent	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:61192399T>C	ENST00000317995.4	-	2	405	c.141A>G	c.(139-141)gaA>gaG	p.E47E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	47					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GAGACTGGTATTCCCCATTAG	0.403000													6	26					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388400	26388400	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:26388400C>T	ENST00000356709.4	+	4	713	c.602C>T	c.(601-603)gCt>gTt	p.A201V	BTN2A2_ENST00000416795.2_Missense_Mutation_p.A201V|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A201V|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A85V	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	201	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ATCGCTGATGCTGACGGCCTC	0.572000													26	99					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:1558987G>A	ENST00000381605.4	-	2	494	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552000													21	185					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690634	91690634	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:91690634G>C	ENST00000359028.2	+	24	5923	c.5698G>C	c.(5698-5700)Gaa>Caa	p.E1900Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1900Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1888Q|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1900	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAAACAAGAAGCAACAGA	0.448000			T	BRAF	papillary thyroid								10	33					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179112101	179112101	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:179112101C>T	ENST00000408940.3	-	1	78	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ABL2_ENST00000367623.4_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.E27K|ABL2_ENST00000512653.1_Missense_Mutation_p.E27K|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000344730.3_Missense_Mutation_p.E27K|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000511413.1_Intron	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	0	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E27K(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTGAGGCCTCAGTGCACAGG	0.458000			T	ETV6	AML								32	17					0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510167	140510167	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:140510167G>C	ENST00000371417.3	-	3	1025	c.485C>G	c.(484-486)tCa>tGa	p.S162*		NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	162										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTCCCCTGCTGAGAAACCCGC	0.642000													8	43					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125827663	125827663	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:125827663A>G	ENST00000373647.4	+	14	1965	c.1831A>G	c.(1831-1833)Aac>Gac	p.N611D	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	611	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCGGGATATTAACCGAACATT	0.388000													4	157					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													5	17					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94757357	94757357	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:94757357G>A	ENST00000371552.4	+	19	2094	c.2065G>A	c.(2065-2067)Gtc>Atc	p.V689I	EXOC6_ENST00000260762.6_Missense_Mutation_p.V694I|EXOC6_ENST00000443748.2_Missense_Mutation_p.V591I|EXOC6_ENST00000371547.4_Missense_Mutation_p.V710I	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	694					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAACTTAGATGTCATACAGTG	0.348000													12	45					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921284	39921284	+	Silent	SNP	G	G	A	rs146804895		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:39921284G>A	ENST00000393931.3	-	6	1063	c.945C>T	c.(943-945)ctC>ctT	p.L315L	JUP_ENST00000393930.1_Silent_p.L315L|JUP_ENST00000310706.5_Silent_p.L315L|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	315					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGATCTGCACGAGGGCCTGGG	0.542000													11	86					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12419613	12419613	+	Splice_Site	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:12419613A>G	ENST00000261349.4	-	1	132		c.e1+1		LRP6_ENST00000543091.1_Splice_Site	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6						cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACTCTTCCCACCTCTCAGGA	0.642000													5	26					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107799349	107799349	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:107799349G>T	ENST00000320578.2	+	1	121	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	19					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										GGACTCCACCGTGGGCAAGTC	0.711000													4	27					1.024e-07	1.06264e-07	1	1	0
STRIP2	57464	broad.mit.edu	37	7	129110495	129110495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:129110495C>A	ENST00000249344.2	+	18	1923	c.1883C>A	c.(1882-1884)tCa>tAa	p.S628*	STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628*	NM_020704.2	NP_065755.1			striatin interacting protein 2									p.S628*(1)									TACAGCATCTCAGTCCTGGAT	0.463000													8	31					3.09899e-07	3.19583e-07	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9778813	9778813	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:9778813C>T	ENST00000536656.1	+	9	1185	c.977C>T	c.(976-978)tCg>tTg	p.S326L	PIK3CD_ENST00000377346.4_Missense_Mutation_p.S361L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.S326L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.S28L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	361					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGTCCAGCTCGGAGGTGAGC	0.637000													13	53					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520952	40520952	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:40520952G>A	ENST00000347077.4	+	7	1991	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	ZNF546_ENST00000600094.1_Missense_Mutation_p.R566H|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTTTTAGTCGTCGCTATAAT	0.353000													12	26					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328729	88328729	+	Silent	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr13:88328729C>A	ENST00000325089.6	+	2	1305	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	SLITRK5_ENST00000400028.3_Silent_p.I121I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	362						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCAGCATCGCCTATCAGA	0.612000													9	71					7.48243e-07	7.66833e-07	1	1	0
UBE2M	9040	broad.mit.edu	37	19	59067527	59067527	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:59067527C>T	ENST00000253023.3	-	6	1059	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	161					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACGTTCTGCTCAAACAGCCGC	0.637000													28	58					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137626346	137626346	+	Silent	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr5:137626346C>G	ENST00000323760.6	-	9	1124	c.846G>C	c.(844-846)ctG>ctC	p.L282L	CDC25C_ENST00000356505.3_Silent_p.L252L|CDC25C_ENST00000348983.3_Silent_p.L209L|CDC25C_ENST00000415130.2_Silent_p.L209L|CDC25C_ENST00000357274.3_Silent_p.L239L|CDC25C_ENST00000513970.1_Silent_p.L282L|CDC25C_ENST00000514555.1_Silent_p.L252L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	282					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AATCACCAATCAGGTGCCCCT	0.433000													15	36					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120169904	120169904	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:120169904C>T	ENST00000450251.1	+	3	783	c.237_splice	c.e3-1	p.T80_splice	USP53_ENST00000274030.6_Splice_Site_p.T80_splice			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	80					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GATTCCCAGACGATATTTGCA	0.378000													26	33					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119568489	119568489	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:119568489C>T	ENST00000267260.4	+	8	1009	c.621C>T	c.(619-621)cgC>cgT	p.R207R	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGCACCGCGGCCGGTCCC	0.627000													5	26					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377643	138377643	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:138377643G>A	ENST00000356818.2	+	4	1836	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V	PPP1R26_ENST00000605286.1_Silent_p.V429V|PPP1R26_ENST00000605660.1_Silent_p.V429V|PPP1R26_ENST00000604351.1_Silent_p.V429V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.V429V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	429						nucleolus	protein binding										AGAAGCTAGTGGCCACCAAGA	0.602000													11	23					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152574009	152574009	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:152574009T>C	ENST00000397345.3	-	10	945	c.743A>G	c.(742-744)gAa>gGa	p.E248G	NEB_ENST00000604864.1_Missense_Mutation_p.E248G|NEB_ENST00000427231.2_Missense_Mutation_p.E248G|NEB_ENST00000172853.10_Missense_Mutation_p.E248G|NEB_ENST00000603639.1_Missense_Mutation_p.E248G|NEB_ENST00000409198.1_Missense_Mutation_p.E248G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	248					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTTGCTGTTCAGCGAGACC	0.373000													4	39					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481628	56481628	+	Silent	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:56481628C>G	ENST00000267101.3	+	6	1103	c.663C>G	c.(661-663)ccC>ccG	p.P221P	ERBB3_ENST00000415288.2_Silent_p.P162P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	221					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTTTGGGCCCAACCCCAACC	0.542000													25	88					0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18963007	18963007	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:18963007G>C	ENST00000377275.3	+	5	667	c.434G>C	c.(433-435)aGt>aCt	p.S145T		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	145					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						CTCACCCTTAGTTCAATTAAG	0.433000													5	46					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41025868	41025868	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:41025868C>T	ENST00000352632.3	+	16	3550	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1155V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1155V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1155					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGCGAGGCGCTGCTGGCC	0.687000													4	14					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43804213	43804213	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:43804213G>A	ENST00000372470.3	+	3	255	c.212_splice	c.e3-1	p.R71_splice	MPL_ENST00000413998.2_Splice_Site_p.R71_splice	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	71					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGCCAACAGGGAGAAGCCCC	0.587000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						27	45					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42781263	42781263	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:42781263C>T	ENST00000310232.6	-	9	1110	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	343										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTAGCTCTTCAAGCTCTCTC	0.517000													11	72					0	0	1	0	0
GMFB	2764	broad.mit.edu	37	14	54950435	54950435	+	Silent	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:54950435C>G	ENST00000554908.1	-	2	151	c.54G>C	c.(52-54)ctG>ctC	p.L18L	GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000358056.3_Silent_p.L18L			P60983	GMFB_HUMAN	glia maturation factor, beta	18	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						GAAACTTTCTCAGCTTTTCCA	0.323000													7	23					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714833	138714833	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:138714833C>T	ENST00000389532.4	-	11	1738	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	CAMSAP1_ENST00000312405.6_Silent_p.E280E|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.E569E	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	558						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCCTGGGGAACTCCGGGTCAG	0.567000													91	188					0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151766915	151766915	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:151766915C>A	ENST00000367303.4	-	2	154	c.32G>T	c.(31-33)aGa>aTa	p.R11I	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	11										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGATGAGATCTGGCCACGGC	0.363000													3	26					0.115264	0.115264	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	46					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442219	138442219	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:138442219C>A	ENST00000344876.4	-	4	3758	c.3372G>T	c.(3370-3372)gaG>gaT	p.E1124D	PCDH18_ENST00000412923.2_Missense_Mutation_p.E1123D|PCDH18_ENST00000511115.1_Missense_Mutation_p.E304D|PCDH18_ENST00000510305.1_Missense_Mutation_p.E335D|PCDH18_ENST00000507846.1_Missense_Mutation_p.E903D	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1124	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTTGTTAATCTCTGCCACCA	0.408000													17	26					1.50039e-11	1.56686e-11	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40384065	40384065	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:40384065C>G	ENST00000221347.6	-	21	9552	c.9545G>C	c.(9544-9546)gGc>gCc	p.G3182A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3182	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGGGGCCCTCACATAC	0.647000													35	125					0	0	1	0	0
SRP14	6727	broad.mit.edu	37	15	40330554	40330554	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:40330554C>T	ENST00000267884.6	-	3	210	c.139G>A	c.(139-141)Gag>Aag	p.E47K	SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_Missense_Mutation_p.E47K|SRP14_ENST00000560773.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	47					negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TCAAAGCCCTCCACAGTACCC	0.502000													8	42					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256601	186256601	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:186256601C>T	ENST00000392499.2	-	4	760	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CRYGS_ENST00000307944.5_Missense_Mutation_p.E141K	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	141	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TTGGGTAGCTCATAGAAAATC	0.537000													10	37					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31266577	31266577	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:31266577G>A	ENST00000332585.6	+	3	1119	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	OSBP2_ENST00000407373.1_Missense_Mutation_p.G166S|OSBP2_ENST00000403222.3_Missense_Mutation_p.G174S|OSBP2_ENST00000446658.2_Missense_Mutation_p.G339S|OSBP2_ENST00000437268.2_Missense_Mutation_p.G81S|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.G339S	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	339					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAGCTGGACGGCCTCAAGAT	0.557000													5	43					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930446	42930446	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:42930446G>A	ENST00000244289.4	-	1	1132	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	286					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGATTCCGAGCACTGGTT	0.438000													4	187					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74637401	74637401	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:74637401G>A	ENST00000358632.4	-	3	830	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CYP11A1_ENST00000419019.2_Silent_p.F45F|CYP11A1_ENST00000268053.6_Silent_p.F203F|CYP11A1_ENST00000541301.1_Intron	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	203					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGGCAAAGCGGAACAGGTCAT	0.567000													16	38					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70617222	70617222	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:70617222G>C	ENST00000449580.1	+	23	3574	c.3523G>C	c.(3523-3525)Gag>Cag	p.E1175Q	TAF1_ENST00000276072.3_Missense_Mutation_p.E1196Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E1175Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1196Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1175					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCGAGATGAAGAGGGGAAAGA	0.468000													18	47					0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334307	39334307	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:39334307C>T	ENST00000377726.2	-	1	153	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.657000													54	81					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56505363	56505363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:56505363C>A	ENST00000370754.5	-	17	1968	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	DST_ENST00000370788.2_Nonsense_Mutation_p.E479*|DST_ENST00000446842.2_Nonsense_Mutation_p.E153*|DST_ENST00000361203.3_Nonsense_Mutation_p.E479*|DST_ENST00000312431.6_Nonsense_Mutation_p.E479*|DST_ENST00000518935.1_Nonsense_Mutation_p.E153*|DST_ENST00000370765.6_Nonsense_Mutation_p.E153*|DST_ENST00000421834.2_Nonsense_Mutation_p.E479*|DST_ENST00000370769.4_Nonsense_Mutation_p.E479*|DST_ENST00000244364.6_Nonsense_Mutation_p.E153*			Q03001	DYST_HUMAN	dystonin	479					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGAACATTCGTTCCTTAAG	0.388000													44	49					3.86361e-14	4.06048e-14	1	1	0
TMEM132A	54972	broad.mit.edu	37	11	60699312	60699312	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:60699312C>T	ENST00000005286.4	+	6	1324	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	TMEM132A_ENST00000453848.2_Silent_p.L390L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	390						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGGGAAATCCTGGTGTCTGA	0.627000													23	110					0	0	1	0	0
TATDN1	83940	broad.mit.edu	37	8	125516547	125516547	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:125516547C>G	ENST00000276692.6	-	9	595	c.558G>C	c.(556-558)ttG>ttC	p.L186F	TATDN1_ENST00000605953.1_Missense_Mutation_p.L186F|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Missense_Mutation_p.L132F|TATDN1_ENST00000519548.1_Missense_Mutation_p.L139F	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	186						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCAAGTCAATCAAAGCAGCTG	0.318000													16	87					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41525914	41525914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:41525914C>T	ENST00000263253.7	+	5	2408	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	397					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCATCTTCTCGACAAATCAT	0.363000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				21	28					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417669	44417669	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:44417669T>C	ENST00000269973.5	-	10	3009	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.Y640C	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	640					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTCACATTTGTATGGTTTTTC	0.468000													12	111					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798775	119798775	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:119798775A>C	ENST00000355624.3	-	3	1412	c.973T>G	c.(973-975)Ttt>Gtt	p.F325V	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.F325V|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	325					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTTTCTTCAAATGGATTTTTC	0.348000													5	58					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369942	139369942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:139369942G>C	ENST00000313050.7	-	1	2199	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.S531*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.S531*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.S531*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	531					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTCCTGGCTGAAGGCCTCTT	0.617000													3	33					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31864575	31864575	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:31864575G>A	ENST00000395728.3	-	2	306	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	EHMT2_ENST00000375530.4_Missense_Mutation_p.R46C|EHMT2_ENST00000375528.4_Missense_Mutation_p.R103C|EHMT2_ENST00000375537.4_Missense_Mutation_p.R46C			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	46					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCTTCACTACGAGGGGTGTCC	0.567000													19	107					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045999	80045999	+	Silent	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:80045999G>C	ENST00000306749.2	-	17	2996	c.2778C>G	c.(2776-2778)ccC>ccG	p.P926P		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	926					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCAGTCTTGGGCAGGATGG	0.672000													17	95					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83390119	83390119	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:83390119G>A	ENST00000262752.2	-	7	608	c.601C>T	c.(601-603)Cca>Tca	p.P201S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P201S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	201	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACTTTTCTGGCTTCAGGTCT	0.363000													3	5					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80879159	80879159	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:80879159G>C	ENST00000424347.2	+	13	1841	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q	CEP78_ENST00000277082.5_Missense_Mutation_p.E518Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E519Q|CEP78_ENST00000415759.2_Missense_Mutation_p.E519Q|CEP78_ENST00000376598.2_Missense_Mutation_p.E518Q			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	518					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CCTGGATGATGAAGGTGTTTT	0.373000													5	41					0	0	1	0	0
PARD6G	84552	broad.mit.edu	37	18	77917940	77917940	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr18:77917940G>A	ENST00000353265.3	-	3	1042	c.845C>T	c.(844-846)cCg>cTg	p.P282L	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	282					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CAGGACGCGCGGGGCGGGGGG	0.731000													3	15					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567367	4567367	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:4567367T>A	ENST00000360213.1	+	1	947	c.947T>A	c.(946-948)aTt>aAt	p.I316N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAATGAAGATTAGATGATTA	0.403000													7	24					0	0	1	0	0
CALHM2	51063	broad.mit.edu	37	10	105207066	105207066	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:105207066G>A	ENST00000260743.5	-	4	1338	c.815C>T	c.(814-816)aCg>aTg	p.T272M	CALHM2_ENST00000369788.3_Missense_Mutation_p.T272M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	272						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTGGCTGCGTGCCTTCCAC	0.597000													44	77					0	0	1	0	0
IFNA17	3451	broad.mit.edu	37	9	21227789	21227789	+	Silent	SNP	C	C	T	rs143881964	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:21227789C>T	ENST00000413767.2	-	1	432	c.384G>A	c.(382-384)ggG>ggA	p.G128G		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	128					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCTCTTCCATCCCAACCTCCT	0.443000													162	61					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95166913	95166913	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:95166913A>T	ENST00000325885.5	+	5	1194	c.1123A>T	c.(1123-1125)Act>Tct	p.T375S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	375	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCTCTCTTTACTGTGTGCTG	0.393000													30	57					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514622	123514622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:123514622C>A	ENST00000422452.2	-	32	8026	c.7963G>T	c.(7963-7965)Gag>Tag	p.E2655*	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.E2648*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGGCAATCTCCAACACGTGA	0.537000													48	31					3.05275e-18	3.29218e-18	1	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25266692	25266692	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:25266692C>T	ENST00000328086.7	-	2	1224	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	141					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GAGTGCTTCTCCCGGTGCACG	0.567000													8	16					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53185712	53185712	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:53185712G>A	ENST00000445930.2	+	10	781	c.775G>A	c.(775-777)Gag>Aag	p.E259K	PSMC6_ENST00000606149.1_Missense_Mutation_p.E245K			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TCGGTTTTCTGAGGGTACTTC	0.348000													16	70					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487158	51487158	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:51487158C>G	ENST00000340438.4	+	1	678	c.436C>G	c.(436-438)Cta>Gta	p.L146V		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	146					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGAAATGGCCCTAGAAGAATC	0.507000													9	3					0	0	1	0	0
MRPS15	64960	broad.mit.edu	37	1	36921903	36921903	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:36921903T>G	ENST00000373116.5	-	7	682	c.521A>C	c.(520-522)aAc>aCc	p.N174T	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	174					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACATCATAGTTGGTGTTACG	0.468000													10	51					0	0	1	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150636133	150636133	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:150636133C>T	ENST00000271732.3	-	3	334	c.290G>A	c.(289-291)cGt>cAt	p.R97H	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	97						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCGCTTCTTACGCATGGTCGG	0.488000													38	36					0	0	1	0	0
SLC46A1	113235	broad.mit.edu	37	17	26726702	26726702	+	Silent	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:26726702G>C	ENST00000440501.1	-	6	1445	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.L421L	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	450					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCTGGAACTCGAGGTGAGGAT	0.547000													5	50					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868341	9868341	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9868341G>A	ENST00000397902.2	-	6	1825	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCTGTGTGCGTTCGCATGTG	0.428000													18	62					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159610009	159610009	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:159610009G>A	ENST00000460298.1	+	7	1563	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	SCHIP1_ENST00000482804.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Intron|SCHIP1_ENST00000445224.2_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Intron|IQCJ-SCHIP1_ENST00000412423.2_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron			Q9P0W5	SCHI1_HUMAN		0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGCCAAAGAAGAAAAGCCCAG	0.463000													8	13					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60737907	60737907	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:60737907C>T	ENST00000331758.3	+	5	502	c.476C>T	c.(475-477)tCg>tTg	p.S159L	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000370848.4_Missense_Mutation_p.S162L|SS18L1_ENST00000421564.1_Missense_Mutation_p.S159L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	159	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GGACCCGCCTCGCAGGGCGTC	0.652000			T	SSX1	synovial sarcoma								26	50					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118644398	118644398	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:118644398C>T	ENST00000336338.5	-	5	664	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	200						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTCCTCTCCGCTTTAACTG	0.512000													46	84					0	0	1	0	0
NUDT18	79873	broad.mit.edu	37	8	21965792	21965792	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:21965792C>T	ENST00000309188.6	-	4	346	c.228G>A	c.(226-228)ggG>ggA	p.G76G	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_5'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	76	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GCTCCATTCTCCCCGCAGGCA	0.652000													3	13					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607776	84607776	+	Silent	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:84607776G>C	ENST00000344803.2	+	4	2438	c.2391G>C	c.(2389-2391)ctG>ctC	p.L797L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACAAGGATCTGAGGTCTAACT	0.468000													14	74					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75671331	75671331	+	Silent	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:75671331G>T	ENST00000372764.3	+	2	111	c.18G>T	c.(16-18)gcG>gcT	p.A6A	C10orf55_ENST00000412307.2_3'UTR|PLAU_ENST00000446342.1_5'UTR|C10orf55_ENST00000409178.1_3'UTR|PLAU_ENST00000372762.4_Silent_p.A6A|PLAU_ENST00000494287.1_3'UTR	NM_002658.3	NP_002649.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	6					blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CCCTGCTGGCGCGCCTGCTTC	0.632000													4	35					0.014758	0.0149391	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18684345	18684345	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:18684345C>T	ENST00000406451.3	+	9	1105	c.955C>T	c.(955-957)Cta>Tta	p.L319L	HDAC9_ENST00000417496.2_Silent_p.L317L|HDAC9_ENST00000432645.2_Silent_p.L319L|HDAC9_ENST00000441542.2_Silent_p.L322L|HDAC9_ENST00000456174.2_Silent_p.L291L|HDAC9_ENST00000405010.3_Silent_p.L319L|HDAC9_ENST00000406072.1_Silent_p.L306L|HDAC9_ENST00000428307.2_Silent_p.L275L|HDAC9_ENST00000401921.1_Silent_p.L278L|HDAC9_ENST00000524023.1_Silent_p.L242L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	319	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGAACCTGCTAAGTCTTTA	0.413000													18	24					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655993	12655993	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:12655993C>G	ENST00000425538.1	+	10	1588	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	MYOCD_ENST00000343344.4_Missense_Mutation_p.S463C|MYOCD_ENST00000395988.1_Missense_Mutation_p.S367C	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	463	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCCTCCTCTGACCTGTCA	0.622000													20	104					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119611873	119611873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:119611873G>C	ENST00000368468.3	-	5	1313	c.872C>G	c.(871-873)tCa>tGa	p.S291*	MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.S314*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	291					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATAGTAGGCTGAGAGTAGTCC	0.318000													6	52					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Nonsense_Mutation	SNP	C	C	A	rs112431538		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:7577085C>A	ENST00000420246.2	-	8	985	c.853G>T	c.(853-855)Gag>Tag	p.E285*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E285*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E285*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	17					6.2361e-21	6.76946e-21	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													5	39					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990093	70990093	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:70990093G>C	ENST00000256389.3	-	2	1776	c.1532C>G	c.(1531-1533)tCa>tGa	p.S511*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	461	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TAAAGTTCCTGATGGCAGAAA	0.458000													23	121					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	65					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131796456	131796456	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:131796456G>A	ENST00000392953.3	+	6	1117	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E129K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E200K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000439368.2_3'UTR	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	200	SH3.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGTCTGCGCTGAAGCACTCTG	0.627000													11	55					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27454980	27454980	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:27454980G>A	ENST00000264705.4	+	17	2695	c.2533G>A	c.(2533-2535)Gca>Aca	p.A845T	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.A782T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	845	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGTATCATCGCACATGCCCA	0.562000													17	97					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406167	9406167	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9406167G>A	ENST00000591998.1	-	6	2141	c.1913C>T	c.(1912-1914)aCt>aTt	p.T638I	ZNF699_ENST00000308650.3_Missense_Mutation_p.T638I			Q32M78	ZN699_HUMAN	zinc finger protein 699	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTTTCTCTAGTGTGAGTTTT	0.423000													30	57					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76378501	76378501	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:76378501A>G	ENST00000263187.3	+	20	2844	c.2740A>G	c.(2740-2742)Agt>Ggt	p.S914G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	914			S -> N (in dbSNP:rs5745549).		chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATATATTTAAGTAACCTCAA	0.358000								Mismatch excision repair (MMR)					4	25					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796884	127796884	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:127796884C>T	ENST00000556132.1	-	6	3151	c.2287G>A	c.(2287-2289)Gac>Aac	p.D763N	SOGA3_ENST00000481848.2_Missense_Mutation_p.D763N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D763N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D763N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D763N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	763						integral to membrane											GAGTCGTCGTCGCTCTCCTTC	0.706000													22	87					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399868	142399868	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:142399868T>C	ENST00000258042.1	-	2	735	c.595A>G	c.(595-597)Atc>Gtc	p.I199V		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	199					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGGTATGGGATACATGCTGTG	0.433000													77	81					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97847351	97847351	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:97847351C>T	ENST00000220763.5	+	3	794	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	195					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GTGGAAGCTGCCAAGGTGGGG	0.488000													4	88					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99003736	99003736	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:99003736G>A	ENST00000453547.2	-	8	1173	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L383F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L392F|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L392F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L383F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L363F																							TGTCTAATAAGTTGTTTCTTC	0.458000													35	71					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079426	74079426	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:74079426C>T	ENST00000370359.5	-	1	89	c.90G>A	c.(88-90)ccG>ccA	p.P30P	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	30						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTGTGGCGGCGGAAGTGGTA	0.612000													84	73					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34473710	34473710	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:34473710G>A	ENST00000241052.4	+	4	525	c.436G>A	c.(436-438)Gtt>Att	p.V146I		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	146					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTGGGATCTCGTTGGAAATAA	0.403000													33	30					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175219	73175219	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:73175219C>G	ENST00000286657.4	-	15	2110	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	692	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAACCAATTTCTTTATCACAG	0.448000													11	48					0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34205117	34205117	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:34205117C>G	ENST00000374273.3	+	2	476	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	122					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GACCCTGGATCTGAGGCAGGA	0.652000													3	10					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27412521	27412521	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:27412521C>T	ENST00000326799.3	-	11	1376	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	YME1L1_ENST00000376016.3_Missense_Mutation_p.E353K|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.E320K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	410					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACAAACATCTCATCAAATTCG	0.443000													30	166					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633987	70633987	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:70633987C>T	ENST00000381269.2	-	2	1906	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E385K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E385K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E385K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E385K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	385					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGTGCACCTCGCTCATGCTG	0.512000													59	100					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145781002	145781002	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:145781002C>G	ENST00000276826.5	-	3	739	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E180Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E180Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	180					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TAGTCCTTCTCAAGGAACACT	0.468000													37	92					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50598162	50598162	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:50598162G>C	ENST00000262794.5	+	24	3355	c.3272G>C	c.(3271-3273)gGa>gCa	p.G1091A	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G1091A|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G1071A|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G218A|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G1091A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1091					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAAAGGTTGGATCAGTAGAG	0.413000													24	87					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75865511	75865511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:75865511G>A	ENST00000322507.8	-	16	3619	c.3310C>T	c.(3310-3312)Cga>Tga	p.R1104*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1104*|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1104*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1104	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R1104R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAGTCACTCGGAAGCTTGAC	0.458000													21	138					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17113797	17113797	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:17113797C>T	ENST00000265970.7	-	28	4477	c.4478G>A	c.(4477-4479)aGa>aAa	p.R1493K	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1113K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1493	Interaction with PtdIns(4,5)P2-containing membranes.|PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATGTGTGTTCTTCCTAGAAC	0.318000													8	42					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074700	20074700	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:20074700G>T	ENST00000351989.3	+	3	1165	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	DGCR8_ENST00000407755.1_Missense_Mutation_p.D246Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.D246Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	246	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.			DDFDNDV -> VCWQPLL (in Ref. 6; AAF82263).	primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTTTGACAACGATGTGGATGC	0.537000													41	125					3.4345e-17	3.65608e-17	1	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													5	27					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534103	55534103	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:55534103C>T	ENST00000220676.1	+	2	725	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	193	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTCATGCAGCGCCCTGTGGT	0.587000													37	217					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102553619	102553619	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:102553619G>A	ENST00000393772.2	-	11	1348	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	FBXL13_ENST00000313221.4_Missense_Mutation_p.R308W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	308										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGTGAACCGTCTGCAATAA	0.438000													20	47					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421836	62421836	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:62421836G>C	ENST00000245663.4	-	2	425	c.275C>G	c.(274-276)tCa>tGa	p.S92*	ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.S92*|ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.S92*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	92	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGTGCGCTGAGTACATGAA	0.607000													19	89					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122745861	122745861	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:122745861G>A	ENST00000267199.4	-	4	542	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	144					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATGGAATGAGATCTAAGCTG	0.453000													31	45					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092577	29092577	+	Missense_Mutation	SNP	G	G	T	rs7583228		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:29092577G>T	ENST00000306108.5	-	1	590	c.567C>A	c.(565-567)ttC>ttA	p.F189L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	189							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGATCTTGCCGAACGGGACTG	0.468000													39	68					2.19489e-29	2.39839e-29	1	1	0
GTPBP1	9567	broad.mit.edu	37	22	39124110	39124110	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:39124110G>C	ENST00000216044.5	+	10	1893	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	554					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTGCACATAGACCAGCGGCT	0.602000													7	44					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50912420	50912420	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr18:50912420T>G	ENST00000442544.2	+	16	2983	c.2367T>G	c.(2365-2367)agT>agG	p.S789R	DCC_ENST00000412726.1_Missense_Mutation_p.S637R|DCC_ENST00000581580.1_Missense_Mutation_p.S444R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	789	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGAGTCAAGTTCCCATTATG	0.343000													6	38					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805632	46805632	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:46805632C>T	ENST00000290295.7	-	1	908	c.324G>A	c.(322-324)gcG>gcA	p.A108A		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	108					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCGCGGGGTACGCGGCCAGGG	0.647000													69	121					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502000													31	79					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258342	16258342	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:16258342G>C	ENST00000375759.3	+	11	5811	c.5607G>C	c.(5605-5607)aaG>aaC	p.K1869N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1869					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAATTGAAGATGGAGGCAG	0.507000													10	65					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145534902	145534902	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:145534902G>C	ENST00000528838.1	+	5	691	c.531G>C	c.(529-531)caG>caC	p.Q177H	HSF1_ENST00000400780.4_Missense_Mutation_p.Q112H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	177	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GCCTTCGGCAGAAGCATGCCC	0.662000													3	39					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078548	170078548	+	Silent	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:170078548A>G	ENST00000458537.3	+	1	1138	c.429A>G	c.(427-429)gaA>gaG	p.E143E	SKIL_ENST00000413427.2_Silent_p.E143E|SKIL_ENST00000259119.4_Silent_p.E143E|SKIL_ENST00000426052.2_Silent_p.E123E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	143					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTCCACAGAACTCACTCAGA	0.468000													5	164					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592386	38592386	+	Missense_Mutation	SNP	C	C	T	rs137854610		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:38592386C>T	ENST00000413689.1	-	28	5670	c.5477G>A	c.(5476-5478)cGt>cAt	p.R1826H	SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1826			R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGGCGATACGGAGTGGCTC	0.507000													25	44					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3022357	3022357	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:3022357C>G	ENST00000397114.3	-	23	2580	c.2204G>C	c.(2203-2205)gGa>gCa	p.G735A	CARS_ENST00000380525.4_Missense_Mutation_p.G828A|CARS_ENST00000397111.5_Missense_Mutation_p.G745A|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	745					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGGAAGCTTCCATTCTGGGC	0.517000			T	ALK	ALCL								18	103					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56482903	56482904	+	Frame_Shift_Ins	INS	-	-	AATG			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:56482903_56482904insAATG	ENST00000370765.6	-	23	6035_6036	c.5928_5929insCATT	c.(5926-5931)atcaagfs	p.K1977fs	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1376					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACAGTCTTGTAATGGGGTTTG	0.426													10	70	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4	---	---	---	---					
CNTNAP3	79937	broad.mit.edu	37	9	39133068	39133068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:39133068delG	ENST00000297668.6	-	13	2014	c.1941delC	c.(1939-1941)ccfs	p.P647fs	CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P559fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.P553fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	647	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTGCCCGCTGGGGGCACCTC	0.731													2	4	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41800316	41800316	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:41800316delC	ENST00000392006.3	+	9	1513	c.1340delC	c.(1339-1341)tcfs	p.S447fs	HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.S358fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.S333fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.S447fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.S347fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	447	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCAACCCTTCCAAGAAGTAC	0.522													50	88	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	6	---	---	---	---					
