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
CHD5	26038	broad.mit.edu	37	1	6189033	6189033	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:6189033C>A	uc001amb.2	-	22	3595	c.3484G>T	c.(3484-3486)Gcc>Tcc	p.A1162S	CHD5_uc001alz.2_Missense_Mutation_p.A19S|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1162	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGCGCTTGGCCACCTGCGTG	0.642												
ESPNP	284729	broad.mit.edu	37	1	17030453	17030453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:17030453G>A	uc001azn.1	-	4	883	c.769C>T	c.(769-771)Cag>Tag	p.Q257*						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GGAGGGTGCTGGCCCTTGATG	0.637												
MRTO4	51154	broad.mit.edu	37	1	19584462	19584462	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:19584462C>T	uc001bbs.3	+	5	732	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	159					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTGCCCACCGCCCTCA	0.607												
HPCAL4	51440	broad.mit.edu	37	1	40149794	40149794	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:40149794C>T	uc001cdr.3	-	2	313	c.193G>A	c.(193-195)Gcg>Acg	p.A65T	HPCAL4_uc010oix.2_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	65	EF-hand 2.				central nervous system development	intracellular	calcium ion binding	p.A65S(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTGCTGCGCGAACTTGGAG	0.682												
C1orf177	163747	broad.mit.edu	37	1	55277777	55277777	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:55277777C>A	uc001cyb.4	+	5	731	c.677C>A	c.(676-678)gCa>gAa	p.A226E	C1orf177_uc001cya.4_Missense_Mutation_p.A226E	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	226										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACATATGTGGCACGATCCGTC	0.592												
GPSM2	29899	broad.mit.edu	37	1	109472462	109472462	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:109472462G>C	uc010ovc.2	+	14	2451	c.1955G>C	c.(1954-1956)aGa>aCa	p.R652T	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R652T|GPSM2_uc010ove.1_Missense_Mutation_p.R652T|CLCC1_uc001dwg.1_3'UTR|CLCC1_uc001dwf.1_3'UTR	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	652					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTTACAAAGAGATCAAAAC	0.398												
ZNF697	90874	broad.mit.edu	37	1	120165477	120165477	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:120165477C>T	uc001ehy.1	-	2	1603	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTGCCGCACTCGATGCACGTG	0.647												
PDE4DIP	9659	broad.mit.edu	37	1	144886204	144886204	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:144886204C>T	uc021ouh.1	-	22	3332	c.3030G>A	c.(3028-3030)agG>agA	p.R1010R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.R1010R|PDE4DIP_uc001elx.4_Silent_p.R1076R|PDE4DIP_uc001elv.4_Silent_p.R17R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1010					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1010S(3)|p.R1010N(3)|p.R1010K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCAGCCCTCAGGTGGA	0.522			T	PDGFRB	MPD							
LINGO4	339398	broad.mit.edu	37	1	151774395	151774395	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:151774395G>A	uc001ezf.1	-	1	976	c.786C>T	c.(784-786)tgC>tgT	p.C262C	LINGO4_uc021oyu.1_Silent_p.C262C	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	262						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAGATTGCAGCGAGTGA	0.607												
FLG2	388698	broad.mit.edu	37	1	152329096	152329096	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152329096T>G	uc001ezw.4	-	2	1239	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	389	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACAAGACTGGCTACCTCC	0.443												
CRNN	49860	broad.mit.edu	37	1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152383181G>A	uc001ezx.2	-	2	451	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637												
S100A7A	338324	broad.mit.edu	37	1	153390660	153390660	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:153390660G>A	uc001fbt.1	+	1	159	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	34	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGCTGACGATGATGAAGG	0.483												
HMCN1	83872	broad.mit.edu	37	1	186052023	186052023	+	Silent	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:186052023C>A	uc001grq.1	+	56	9043	c.8814C>A	c.(8812-8814)atC>atA	p.I2938I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2938	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAACAGATATCGGCAGGTATG	0.328												
HHIPL2	79802	broad.mit.edu	37	1	222713493	222713493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:222713493G>A	uc001hnh.1	-	3	1367	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	437					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATCCGGCCTCGGCCCTGGCGC	0.577												
RYR2	6262	broad.mit.edu	37	1	237802413	237802413	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:237802413C>T	uc001hyl.1	+	45	7147	c.7027C>T	c.(7027-7029)Ctt>Ttt	p.L2343F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2343	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGAATGGGCTTCTTGCAGC	0.498												
DUX4L3	653544	broad.mit.edu	37	10	135491113	135491113	+	Missense_Mutation	SNP	G	G	A	rs150899513	by1000genomes	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr10:135491113G>A	uc021qbj.1	+						DUX4L3_uc010qvh.1_Missense_Mutation_p.A242T|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GGTCGCCTTCGCCCACACCGG	0.776												
OR52D1	390066	broad.mit.edu	37	11	5510222	5510222	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:5510222T>A	uc010qzg.2	+	0	308	c.286T>A	c.(286-288)Tcc>Acc	p.S96T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGATTTCCTTTGGTGG	0.498												
PRMT3	10196	broad.mit.edu	37	11	20448405	20448405	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:20448405G>A	uc001mqb.3	+	9	1204	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRMT3_uc001mqc.3_Silent_p.E252E|PRMT3_uc010rdn.2_Silent_p.E267E	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	329							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TCATATCTGAGTGGATGGTGA	0.254												
TMPRSS4	56649	broad.mit.edu	37	11	117985881	117985881	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:117985881G>A	uc021qrd.1	+	10	1329	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	346	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552												
TECTA	7007	broad.mit.edu	37	11	120998873	120998873	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:120998873C>T	uc010rzo.2	+	7	2187	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	729	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y729Y(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGCCTCCTACGCCTTCCCCT	0.622												
C12orf77	196415	broad.mit.edu	37	12	25148921	25148921	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:25148921C>T	uc001rgf.3	-	2	432	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	76										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGCATCCATCGTATGCTGTC	0.502												
ACVRL1	94	broad.mit.edu	37	12	52309923	52309923	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:52309923G>A	uc001rzj.3	+	7	1435	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ACVRL1_uc001rzk.3_Silent_p.Q384Q|ACVRL1_uc010snm.2_Silent_p.Q210Q	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	384	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.E383K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGACGAGCAGATCCGCACGG	0.602												
ESPL1	9700	broad.mit.edu	37	12	53687195	53687195	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:53687195C>T	uc001sck.2	+	30	6391	c.6300C>T	c.(6298-6300)ccC>ccT	p.P2100P	ESPL1_uc001scj.2_Silent_p.P1775P|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2100					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGCTCCCCGACTCAAGT	0.567												
SRRM4	84530	broad.mit.edu	37	12	119568488	119568488	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:119568488G>A	uc001txa.2	+	7	1008	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.R207H(2)|p.R207C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGCACCGCGGCCGGTCC	0.622												
CIT	11113	broad.mit.edu	37	12	120138625	120138625	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:120138625C>T	uc001txj.2	-	43	5604	c.5548G>A	c.(5548-5550)Gga>Aga	p.G1850R	CIT_uc001txh.2_Missense_Mutation_p.G1327R|CIT_uc001txi.2_Missense_Mutation_p.G1808R	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1808	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACGAACACTCCAAATTCTGCA	0.547												
PAN3	255967	broad.mit.edu	37	13	28794510	28794510	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr13:28794510C>T	uc001urz.3	+	5	1147	c.995C>T	c.(994-996)gCg>gTg	p.A332V	PAN3_uc010tdo.1_Missense_Mutation_p.A332V|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.A132V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	332	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGGATTAGCGCCAGGTAAG	0.423												
TRIP11	9321	broad.mit.edu	37	14	92470681	92470681	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:92470681C>T	uc001xzy.3	-	10	4013	c.3639G>A	c.(3637-3639)aaG>aaA	p.K1213K	TRIP11_uc010auf.2_Silent_p.K949K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1213					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.K1213N(2)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTGTTTTAACTTGTCACGTT	0.428			T	PDGFRB	AML							
PRIMA1	145270	broad.mit.edu	37	14	94203651	94203651	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:94203651C>T	uc001ybw.1	-	3	337	c.295G>A	c.(295-297)Gta>Ata	p.V99I	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	99					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCACAGCATACGGCAATGATG	0.532												
AKT1	207	broad.mit.edu	37	14	105241276	105241276	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:105241276G>A	uc001ypk.3	-	7	1187	c.633_splice	c.e7+1	p.T211_splice	AKT1_uc001ypl.3_Splice_Site_p.T211_splice|AKT1_uc010axa.3_Splice_Site_p.T211_splice|AKT1_uc001ypm.3_Splice_Site_p.T211_splice|AKT1_uc001ypn.3_Splice_Site_p.T211_splice|AKT1_uc010tyk.2_Splice_Site_p.T149_splice	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	211	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CCCACTCACTGTGAGGAAGGG	0.647		1	Mis		"""breast, colorectal, ovarian, NSCLC"""							
GABRB3	2562	broad.mit.edu	37	15	26793162	26793162	+	Silent	SNP	G	G	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:26793162G>T	uc001zbb.3	-	9	1471	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	GABRB3_uc021sgg.1_Silent_p.I329I|GABRB3_uc021sgh.1_Silent_p.I315I|GABRB3_uc001zaz.3_Silent_p.I400I|GABRB3_uc001zba.3_Silent_p.I400I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	400					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V455L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCTGTACTGGATTCCTGAGT	0.512												
OTUD7A	161725	broad.mit.edu	37	15	31776752	31776752	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:31776752C>T	uc001zfq.3	-	10	1619	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	OTUD7A_uc001zfr.3_Missense_Mutation_p.R516H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	509						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGAGTCGGCGCGCGTcttgtc	0.592												
RYR3	6263	broad.mit.edu	37	15	33765674	33765674	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:33765674T>A	uc001zhi.3	+	1	176	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	RYR3_uc010bar.3_Missense_Mutation_p.F36I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	36					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGAGGAAGTTCTGCCTGGC	0.547												
CKMT1A	548596	broad.mit.edu	37	15	43991225	43991225	+	Missense_Mutation	SNP	C	C	T	rs148934583		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:43991225C>T	uc001zsn.3	+	9	1584	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CKMT1A_uc010uea.2_Missense_Mutation_p.R429W	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	398	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGATTGTGAACGGCGTCTGGA	0.493												
DUOX2	50506	broad.mit.edu	37	15	45386398	45386398	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:45386398C>T	uc001zun.3	-	33	4800	c.4597G>A	c.(4597-4599)Gtc>Atc	p.V1533I	DUOX2_uc010bea.3_Missense_Mutation_p.V1533I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1533					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGCCTGTTGACGAGCTGACAG	0.572												
CACNA1H	8912	broad.mit.edu	37	16	1262094	1262094	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:1262094G>A	uc002cks.3	+	24	4963	c.4715G>A	c.(4714-4716)cGg>cAg	p.R1572Q	CACNA1H_uc002ckt.3_Missense_Mutation_p.R1572Q|CACNA1H_uc002cku.3_Missense_Mutation_p.R278Q|CACNA1H_uc010brj.3_Missense_Mutation_p.R278Q|CACNA1H_uc002ckv.3_Missense_Mutation_p.R278Q	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1572					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGGCGCGGCGGCGAGAGGAG	0.682												
PAQR4	124222	broad.mit.edu	37	16	3021625	3021625	+	Silent	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:3021625C>A	uc002csj.4	+	2	832	c.498C>A	c.(496-498)acC>acA	p.T166T	PAQR4_uc002csk.4_Silent_p.T127T|PAQR4_uc002csl.4_Silent_p.T92T|PAQR4_uc010uwm.2_Silent_p.T97T	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	166						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GTGCTCTCACCGCCCCCTCCA	0.697												
ZP2	7783	broad.mit.edu	37	16	21213466	21213466	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:21213466G>A	uc010bwn.1	-	10	1445	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	ZP2_uc002dii.2_Missense_Mutation_p.R416W	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	416	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGTGGAACCGTACCAGCCCC	0.507												
NF1	4763	broad.mit.edu	37	17	29556481	29556481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:29556481C>T	uc002hgg.3	+	20	3231	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q950*|NF1_uc010csn.2_Nonsense_Mutation_p.Q810*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	950					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.G949fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCCAAGGACAGGTAAAGTG	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
MARCH10	162333	broad.mit.edu	37	17	60865912	60865912	+	Missense_Mutation	SNP	G	G	A	rs146312903	byFrequency	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:60865912G>A	uc010dds.3	-	2	424	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	MARCH10_uc010ddr.3_Missense_Mutation_p.R47C|MARCH10_uc002jag.4_Missense_Mutation_p.R47C|MARCH10_uc002jah.2_Missense_Mutation_p.R47C	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	47							ligase activity|zinc ion binding	p.R47R(1)|p.R47H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACTGATCGCGTTTCTTCTCA	0.443												
POTEC	388468	broad.mit.edu	37	18	14542738	14542738	+	Silent	SNP	A	A	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:14542738A>G	uc010dln.3	-	0	862	c.408T>C	c.(406-408)cgT>cgC	p.R136R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GATCTTCTCGACGGACGTGGT	0.607												
ZNF532	55205	broad.mit.edu	37	18	56587754	56587754	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:56587754C>T	uc010xeg.2	+	2	2432	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	ZNF532_uc002lhp.3_Silent_p.D743D|ZNF532_uc002lho.3_Silent_p.D745D|ZNF532_uc002lhr.3_Silent_p.D743D|ZNF532_uc002lhs.3_Silent_p.D743D	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TAGATGAAGACCCCTCCAAAC	0.483												
ZNF516	9658	broad.mit.edu	37	18	74154336	74154336	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:74154336G>A	uc021ulp.1	-	2	993	c.675C>T	c.(673-675)acC>acT	p.T225T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTGCGCGGTGATGTGGT	0.697												
ACTL9	284382	broad.mit.edu	37	19	8807821	8807821	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:8807821C>T	uc002mkl.2	-	0	1352	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	411						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCGGTACACGATATAGGGA	0.632												
LDLR	3949	broad.mit.edu	37	19	11224366	11224366	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:11224366G>C	uc002mqk.4	+	9	1701	c.1514G>C	c.(1513-1515)gGc>gCc	p.G505A	LDLR_uc010xlk.2_Missense_Mutation_p.G505A|LDLR_uc010xll.2_Missense_Mutation_p.G464A|LDLR_uc021upc.1_Missense_Mutation_p.G384A|LDLR_uc010xln.2_Missense_Mutation_p.G378A|LDLR_uc010xlo.2_Missense_Mutation_p.G337A|LDLR_uc010xlm.2_Missense_Mutation_p.G358A|LDLR_uc021upd.1_Missense_Mutation_p.G242A	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	505					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.K504R(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GATACCAAGGGCGTGAAGAGG	0.592												
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418												
GIPC1	10755	broad.mit.edu	37	19	14591540	14591540	+	Silent	SNP	C	C	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:14591540C>G	uc002myt.3	-	4	609	c.339G>C	c.(337-339)ctG>ctC	p.L113L	GIPC1_uc002myv.3_Silent_p.L16L|GIPC1_uc002myu.3_Silent_p.L113L|GIPC1_uc002myw.3_Silent_p.L16L|GIPC1_uc002myx.3_Silent_p.L113L|GIPC1_uc002myy.3_Silent_p.L16L	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	113					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTGGCCCCCCAGGAGCTTGT	0.612											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:33695616A>C	uc010edh.3	+	3	426	c.333A>C	c.(331-333)ccA>ccC	p.P111P	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	111	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	p.P111P(2)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662												
ZNF546	339327	broad.mit.edu	37	19	40521654	40521656	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:40521654_40521656delATC	uc002oms.2	+	6	2733_2735	c.2477_2479delATC	c.(2476-2481)aatcat>aat	p.H827del	ZNF546_uc002omt.2_In_Frame_Del_p.H801del	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	827					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)					CATCAGAGAAATCATATTAGTGA	0.330												
TSKS	60385	broad.mit.edu	37	19	50243159	50243159	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:50243159G>A	uc002ppm.3	-	10	1664	c.1653C>T	c.(1651-1653)caC>caT	p.H551H		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	551							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACATCTTCAAGTGTAGATGGT	0.592												
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:52942411G>A	uc002pzk.3	+	3	1804	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.A566A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443												
FCAR	2204	broad.mit.edu	37	19	55385635	55385635	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:55385635C>T	uc002qhr.1	+	0					FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_5'UTR|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_5'UTR|FCAR_uc002qhv.1_5'UTR|FCAR_uc002qhw.1_5'UTR|FCAR_uc002qhx.1_5'UTR|FCAR_uc002qhy.1_5'UTR|FCAR_uc002qhz.1_5'UTR|FCAR_uc002qia.1_5'UTR	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AATTCCCTGACGAGGGGCTCT	0.498												
RAD51AP2	729475	broad.mit.edu	37	2	17698942	17698942	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:17698942delT	uc002rcl.1	-	0	765	c.741delA	c.(739-741)aaafs	p.K247fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K238fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	247										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATAGCTAGGTTTGGCAATTT	0.353												
ADCY3	109	broad.mit.edu	37	2	25095488	25095489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:25095488_25095489insG	uc010ykm.2	-	1	974_975	c.775_776insC	c.(775-777)cgcfs	p.R259fs	ADCY3_uc002rfs.4_Frame_Shift_Ins_p.R259fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	259					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAGCGACTGGCGGGCCTCCAGG	0.634												
PLB1	151056	broad.mit.edu	37	2	28761204	28761204	+	Missense_Mutation	SNP	G	G	A	rs149462466		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:28761204G>A	uc002rmb.2	+	9	618	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	PLB1_uc010ezj.2_Missense_Mutation_p.G203S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	192	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)					TGCGGCGGGCGGCGTGGATGA	0.642												
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308												
LRP1B	53353	broad.mit.edu	37	2	141081530	141081530	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:141081530T>C	uc002tvj.1	-	80	13418	c.12446A>G	c.(12445-12447)gAg>gGg	p.E4149G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4149					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4149*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTAAGTACTCTACTGAACC	0.289										TSP Lung(27;0.18)		
SGOL2	151246	broad.mit.edu	37	2	201437974	201437974	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:201437974G>A	uc002uvw.2	+	6	3018	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	SGOL2_uc010zhd.1_Missense_Mutation_p.E969K|SGOL2_uc010zhe.1_Missense_Mutation_p.E969K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	969					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAACAGTAATGAAAAGGAAAG	0.274												
SP140	11262	broad.mit.edu	37	2	231109774	231109774	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:231109774A>T	uc002vql.3	+	5	758	c.643A>T	c.(643-645)Agc>Tgc	p.S215C	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.S215C|SP140_uc002vqn.3_Missense_Mutation_p.S215C|SP140_uc002vqm.3_Missense_Mutation_p.S215C|SP140_uc010fxl.3_Missense_Mutation_p.S215C	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	215					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGATGCACCCAGCCTACTACC	0.443												
UGT1A1	54575	broad.mit.edu	37	2	234545195	234545195	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:234545195C>T	uc002vur.3	+	0	73	c.27C>T	c.(25-27)ccC>ccT	p.P9P	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.P9P	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGACCAGCCCCGTTCCTTTAT	0.572												
PTPRA	5786	broad.mit.edu	37	20	2969091	2969091	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:2969091G>A	uc010zqd.2	+	7	1059	c.742G>A	c.(742-744)Gac>Aac	p.D248N	PTPRA_uc002whj.3_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.3_Missense_Mutation_p.D228N|PTPRA_uc002whl.3_Missense_Mutation_p.D228N|PTPRA_uc002whm.3_Missense_Mutation_p.D4N|PTPRA_uc002whn.3_Missense_Mutation_p.D228N|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	237	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.D237N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATGGCAGACGACAATAAGCT	0.507												
RBPJL	11317	broad.mit.edu	37	20	43936814	43936814	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:43936814C>A	uc002xns.3	+	1	126	c.54C>A	c.(52-54)caC>caA	p.H18Q	MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Splice_Site|RBPJL_uc002xnt.3_Missense_Mutation_p.H18Q	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	18					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTTTGACTCACCTGAGCCTGC	0.627												
NCOA5	57727	broad.mit.edu	37	20	44698964	44698964	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:44698964C>T	uc002xrd.3	-	1	778	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.V84M	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCTCACGTCCCGAACG	0.532												
CHL1	10752	broad.mit.edu	37	3	405060	405060	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:405060A>T	uc003bot.3	+	13	2221	c.1579A>T	c.(1579-1581)Att>Ttt	p.I527F	CHL1_uc003bou.3_Missense_Mutation_p.I511F|CHL1_uc003bow.2_Missense_Mutation_p.I511F|CHL1_uc011asi.2_Missense_Mutation_p.I527F|BC065754_uc003box.1_Non-coding_Transcript	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	511	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATTTGGATATTAGAAGTAT	0.378												
CACNA2D3	55799	broad.mit.edu	37	3	54930849	54930849	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:54930849G>A	uc003dhf.3	+	25	2368	c.2320G>A	c.(2320-2322)Gct>Act	p.A774T	CACNA2D3_uc003dhg.1_Missense_Mutation_p.A680T|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	774						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A774T(2)|p.A773V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCGAAGAGCCGCTGAGCAGAT	0.537												
PIK3CB	5291	broad.mit.edu	37	3	138417859	138417859	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:138417859C>T	uc011bmq.2	-	10	1660	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PIK3CB_uc011bmn.2_Missense_Mutation_p.E66K|PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.E141K	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	554	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCCATTTCATTTTCACAC	0.383												
SDHAP2	727956	broad.mit.edu	37	3	195400814	195400815	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:195400814_195400815insTT	uc003fuw.3	+	8	1304_1305	c.110_111insTT	c.(109-111)tctfs	p.S37fs	SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		ACCTGGTTGTCTGGTCAGGCAT	0.574												
IDUA	3425	broad.mit.edu	37	4	995507	995507	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:995507C>T	uc003gby.3	+	5	718	c.630C>T	c.(628-630)cgC>cgT	p.R210R	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.R163R	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	210					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	AGGGTCTGCGCGCCGCCAGCC	0.716												
TLR10	81793	broad.mit.edu	37	4	38777060	38777060	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:38777060G>A	uc003gtj.3	-	3	790	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TLR10_uc021xnk.1_Missense_Mutation_p.T37M|TLR10_uc003gti.3_Missense_Mutation_p.T51M|TLR10_uc021xnl.1_Missense_Mutation_p.T51M|TLR10_uc003gtk.3_Missense_Mutation_p.T51M|TLR10_uc021xnm.1_Missense_Mutation_p.T51M	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	51					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCCAGTGTCGTTGTGGCTGG	0.448												
CCDC158	339965	broad.mit.edu	37	4	77304876	77304876	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:77304876C>T	uc003hkb.4	-	5	895	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CCDC158_uc003hkd.3_Missense_Mutation_p.E248K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	248										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCAGTGCTTCAAGTTGATCC	0.368												
SPARCL1	8404	broad.mit.edu	37	4	88420673	88420673	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:88420673C>T	uc010ikm.3	-	3	626	c.54_splice	c.e3+1	p.P18_splice	SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Splice_Site_p.P18_splice|SPARCL1_uc011cdd.2_Splice_Site	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	18					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGAAATTTACCGGGATTGCAG	0.363												
FGA	2243	broad.mit.edu	37	4	155507297	155507297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:155507297G>T	uc003iod.1	-	4	1342	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	FGA_uc003ioe.1_Nonsense_Mutation_p.Y428*|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	428					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTCTGTGTGGTACTCTCTCC	0.512												
THBS4	7060	broad.mit.edu	37	5	79378941	79378941	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:79378941A>G	uc021yaw.1	+	21	3054	c.2863A>G	c.(2863-2865)Aat>Gat	p.N955D	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	955					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCAAACCCAGAATTTCGACCG	0.453											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HARS	3035	broad.mit.edu	37	5	140053903	140053903	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140053903C>T	uc003lgv.3	-	12	1551	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_Missense_Mutation_p.R421Q|HARS_uc011czm.2_Missense_Mutation_p.R450Q|HARS_uc003lgw.3_Missense_Mutation_p.R470Q|HARS_uc011czn.2_Missense_Mutation_p.R430Q|HARS_uc011czo.2_Missense_Mutation_p.R416Q|HARS_uc011czp.2_Missense_Mutation_p.R376Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	490					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTCTTCTCTTCGGACATCCAC	0.522												
PCDHAC2	56146	broad.mit.edu	37	5	140174750	140174750	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140174750G>A	uc003lhd.2	+	0	307	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A67A|PCDHAC2_uc011czy.2_Silent_p.A67A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.647												
PCDHB4	56131	broad.mit.edu	37	5	140503471	140503471	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140503471G>A	uc003lip.1	+	0	1891	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	631	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.687												
HLA-G	3136	broad.mit.edu	37	6	29856360	29856360	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:29856360C>A	uc010jro.3	+	2	612	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Missense_Mutation_p.L154M|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.672												
PRRT1	80863	broad.mit.edu	37	6	32118160	32118160	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:32118160G>A	uc003nzu.3	-	3	485	c.220C>T	c.(220-222)Cta>Tta	p.L74L	PRRT1_uc003nzs.3_Silent_p.V222V|PRRT1_uc003nzt.3_Silent_p.V181V			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	182					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CCACCGGGTAGACCGGCACGT	0.667												
ITPR3	3710	broad.mit.edu	37	6	33633622	33633622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:33633622C>T	uc021ywr.1	+	13	1644	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	474					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTTTGTCATCCAGCTGCTGGA	0.572												
VEGFA	7422	broad.mit.edu	37	6	43748479	43748479	+	Nonsense_Mutation	SNP	C	C	T	rs45533131		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:43748479C>T	uc003owh.3	+	5	1471	c.973C>T	c.(973-975)Cga>Tga	p.R325*	VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owg.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Nonsense_Mutation_p.R324*|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	145					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	p.R325*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAATCAGTTCGAGGAAAGGG	0.532												
GPRC6A	222545	broad.mit.edu	37	6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:117128089C>T	uc003pxj.1	-	2	801	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	260					response to amino acid stimulus		G-protein coupled receptor activity	p.R260W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363												
LPA	4018	broad.mit.edu	37	6	161020531	161020531	+	Splice_Site	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:161020531C>T	uc003qtl.3	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483												
EGFR	1956	broad.mit.edu	37	7	55238870	55238870	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:55238870G>A	uc003tqk.3	+	15	2129	c.1883G>A	c.(1882-1884)tGc>tAc	p.C628Y	EGFR_uc022adm.1_Missense_Mutation_p.C628Y|EGFR_uc010kzg.2_Missense_Mutation_p.C583Y|EGFR_uc022adn.1_Missense_Mutation_p.C583Y|EGFR_uc011kco.2_Missense_Mutation_p.C575Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	628					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTACAGATGCACTGGGCCA	0.393		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CALN1	83698	broad.mit.edu	37	7	71252851	71252851	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:71252851C>T	uc003twb.4	-	6	1086	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	CALN1_uc003twa.4_Missense_Mutation_p.R190Q|CALN1_uc003twc.4_Missense_Mutation_p.R190Q	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	190						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.R232Q(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGGCTCTTCCGGACGCAGGT	0.552												
GRM3	2913	broad.mit.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:86415655C>T	uc003uid.3	+	2	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	183					synaptic transmission	integral to plasma membrane		p.R183C(2)|p.S182L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562												
ABCB4	5244	broad.mit.edu	37	7	87092144	87092144	+	Silent	SNP	G	G	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:87092144G>T	uc003uiv.1	-	3	292	c.216C>A	c.(214-216)ccC>ccA	p.P72P	ABCB4_uc003uiw.1_Silent_p.P72P|ABCB4_uc003uix.1_Silent_p.P72P|ABCB4_uc003uiy.3_Silent_p.P72P	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	72	ABC transmembrane type-1 1.			IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542).	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATCATGAGGGGGAGACCTG	0.383												
AZGP1	563	broad.mit.edu	37	7	99569626	99569626	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:99569626C>T	uc003ush.3	-	1	172	c.80G>A	c.(79-81)cGt>cAt	p.R27H		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	27					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGAGAGTAACGACCTGCAAA	0.527												
ASB15	142685	broad.mit.edu	37	7	123269046	123269046	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:123269046A>G	uc003vku.1	+	9	1290	c.998A>G	c.(997-999)gAt>gGt	p.D333G	ASB15_uc003vkw.1_Missense_Mutation_p.D333G	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	333					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATGGTTTTGATGTCAACACT	0.418												
ALDH1A1	216	broad.mit.edu	37	9	75567900	75567900	+	Missense_Mutation	SNP	G	G	A	rs144704960		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:75567900G>A	uc004ajd.3	-	0	334	c.17C>T	c.(16-18)aCg>aTg	p.T6M	ALDH1A1_uc011lsh.2_Intron	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	6					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAAGTCTGGCGTGCCTGAGGA	0.418												
OLFML2A	169611	broad.mit.edu	37	9	127566377	127566377	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:127566377C>T	uc004bov.3	+	5	1037	c.924C>T	c.(922-924)aaC>aaT	p.N308N	OLFML2A_uc010mwr.1_Silent_p.N272N|OLFML2A_uc004bow.3_Silent_p.N94N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	308										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTGCAGACAACACCCTCCAGG	0.637												
DBH	1621	broad.mit.edu	37	9	136507481	136507481	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:136507481C>T	uc004cel.3	+	2	648	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	213					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ACGCGTGCACCATGGAGGTCC	0.592												
TLR7	51284	broad.mit.edu	37	X	12904281	12904281	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:12904281C>T	uc004cvc.3	+	2	793	c.654C>T	c.(652-654)gcC>gcT	p.A218A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	218					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATGTCACAGCCGTCCCTACTG	0.343												
ZRSR2	8233	broad.mit.edu	37	X	15840971	15840971	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:15840971G>A	uc004cxg.4	+	10	1100	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	352					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCTCCAGATCGGACTGGCTCC	0.502			"""F, S, Mis"""		"""MDS, CLL"""							
POF1B	79983	broad.mit.edu	37	X	84634327	84634327	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:84634327T>G	uc004eer.2	-	1	279	c.133A>C	c.(133-135)Aaa>Caa	p.K45Q	POF1B_uc004ees.3_Missense_Mutation_p.K45Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	45							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTACATTTTTTTCTGGAGGC	0.577												
THOC2	57187	broad.mit.edu	37	X	122748018	122748020	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:122748018_122748020delGGA	uc004etu.3	-	33	4364_4366	c.4332_4334delTCC	c.(4330-4335)cctcca>cca	p.1444_1445PP>P	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_In_Frame_Del_p.265_266PP>P	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1444	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGACAGTGGTGGAGGAGTATGAT	0.355												
STAG2	10735	broad.mit.edu	37	X	123176470	123176471	+	Frame_Shift_Ins	INS	-	-	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:123176470_123176471insA	uc004eua.3	+	6	841_842	c.437_438insA	c.(436-438)cgafs	p.R146fs	STAG2_uc004etz.4_Frame_Shift_Ins_p.R146fs|STAG2_uc004eub.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004euc.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eud.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eue.3_Frame_Shift_Ins_p.R146fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAGATAATTCGAAAAATGACTG	0.287												
