Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR51F2	119694	broad.mit.edu	37	11	4842772	4842772	+	Missense_Mutation	SNP	G	G	A	rs147733457	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:4842772G>A	uc010qyn.2	+	0	157	c.157G>A	c.(157-159)Gtc>Atc	p.V53I		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V53I(2)|p.A52A(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTGTTGCCGTCTCTGGAAA	0.493000													11	240					0	0	1	0	0
PPP1R42	286187	broad.mit.edu	37	8	67900709	67900709	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr8:67900709A>G	uc003xxc.3	-	5	741	c.596T>C	c.(595-597)aTt>aCt	p.I199T		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 42 (PPP1R42), mRNA.	199																	ATTTAGATCAATTTTCCACAG	0.308000													5	9					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													8	56					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:47696644A>C	uc002ipg.3	-	3	601	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_uc010dbk.3_Missense_Mutation_p.F102V|SPOP_uc002ipb.3_Missense_Mutation_p.F102V|SPOP_uc002ipc.3_Missense_Mutation_p.F102V|SPOP_uc002ipd.3_Missense_Mutation_p.F102V|SPOP_uc002ipe.3_Missense_Mutation_p.F102V|SPOP_uc002ipf.3_Missense_Mutation_p.F102V	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408000										Prostate(2;0.17)			24	46					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122552285	122552285	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:122552285A>C	uc003efw.4	+	3	964	c.825A>C	c.(823-825)agA>agC	p.R275S	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.R113S	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	275					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCGTTTGTAGATTATTAAGGT	0.398000													30	55					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37660566	37660566	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chrX:37660566T>A	uc004ddr.2	+	7	923	c.862T>A	c.(862-864)Ttt>Att	p.F288I	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.F256I|CYBB_uc011mkg.1_Missense_Mutation_p.F21I	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	288	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.R287W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTTGGTGCGGTTTTGGCGATC	0.408000													61	42					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949994	56949994	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:56949994C>T	uc001njl.2	+	0	774	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	179	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGCTCCGAGACCTGGACCTCA	0.652000													27	58					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43818062	43818062	+	Missense_Mutation	SNP	T	T	A	rs78142446	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr9:43818062T>A	uc004ada.2	+	6	1359	c.949T>A	c.(949-951)Tca>Aca	p.S317T	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	317	Laminin G-like 1.			LS -> PT (in Ref. 1; BAB14861/BAB70782).	cell adhesion|signal transduction	integral to membrane	receptor binding	p.S317T(2)		central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGGAATTCTGTCACCCGGAAG	0.338000													3	23					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167024285	167024285	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:167024285A>G	uc001gea.1	-	5	1099	c.755T>C	c.(754-756)aTt>aCt	p.I252T		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	252						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGATGCCAATGATAATGAG	0.582000													34	74					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158510938	158510938	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:158510938A>T	uc003qqx.2	+	24	3630	c.3524A>T	c.(3523-3525)gAg>gTg	p.E1175V	SYNJ2_uc003qqw.2_Missense_Mutation_p.E1175V|SYNJ2_uc003qqy.2_Missense_Mutation_p.E938V|SYNJ2_uc003qqz.2_Missense_Mutation_p.E792V|SYNJ2_uc003qra.2_Missense_Mutation_p.E518V	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1175							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATGCCCAGGAGGCAGAAGCA	0.493000													3	15					0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67167115	67167115	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:67167115T>A	uc001okw.1	-	3	563	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_uc001oku.1_Missense_Mutation_p.K158I|PPP1CA_uc001okv.1_Missense_Mutation_p.K103I|PPP1CA_uc001okx.1_Missense_Mutation_p.K235I	NM_002708	NP_002699	P62136	PP1A_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA.	147					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cytosol|nucleolus	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTTCCACAGTTTGATGTTGTA	0.607000													5	31					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:140481402C>G	uc003vwc.4	-	10	1467	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(49)|p.G469V(30)|p.G469E(12)|p.G469S(12)|p.G469R(7)|p.F468S(1)|p.F468C(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	84					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111625227	111625227	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:111625227A>C	uc001plw.1	-	7	1109	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	PPP2R1B_uc010rwi.1_Missense_Mutation_p.I278R|PPP2R1B_uc001plx.1_Missense_Mutation_p.I342R|PPP2R1B_uc010rwk.1_Missense_Mutation_p.I342R|PPP2R1B_uc010rwl.1_Missense_Mutation_p.I215R|PPP2R1B_uc010rwj.1_Missense_Mutation_p.I181R	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	342							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTTTACCTTTATATAAGGCAG	0.294000													11	18					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717923	26717923	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:26717923C>T	uc002rhk.3	-	8	911	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	262	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCGGGCCTCGATCACCGTG	0.632000													10	49					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43625211	43625211	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:43625211T>C	uc002rsw.4	-	28	4478	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_uc010far.3_Missense_Mutation_p.I571V|THADA_uc002rsx.4_Missense_Mutation_p.I1376V|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.I1085V|THADA_uc010fat.1_Missense_Mutation_p.I523V	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1376							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGTGATCTATCATAACAAAT	0.478000													32	75					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160087	160087	+	RNA	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chrGL000192.1:160087C>T	uc010yih.1	-	11		c.2335G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				cgctccgcctcctccctctcc	0.701000													5	2					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62718880	62718880	+	Splice_Site	SNP	G	G	T	rs148060294	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:62718880G>T	uc001dah.4	-	8	2917	c.2540_splice	c.e8-1	p.G847_splice	KANK4_uc001dai.4_Splice_Site_p.G219_splice|KANK4_uc001daf.4_Splice_Site|KANK4_uc001dag.4_Splice_Site_p.G203_splice	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	847										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CATTGCAGACGCCTGCAAGAG	0.537000													5	64					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042634	112042634	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:112042634C>A	uc001ebh.4	-	1	1662	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	299					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A299T(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ACCACACAAGCTTTGAGGATC	0.438000													23	35					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267187	43267187	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:43267187C>T	uc021yzt.1	+	2	558	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC22A7_uc010jyl.1_Silent_p.A151A|SLC22A7_uc003ous.3_Silent_p.A151A|SLC22A7_uc003out.3_Silent_p.A151A	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	153						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCTTCTTCGCCGGTGTGCTGG	0.562000													28	61					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73581030	73581030	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr14:73581030G>A	uc010ttu.2	+	18	2704	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	RBM25_uc001xno.3_Missense_Mutation_p.D810N|RBM25_uc001xnp.3_Missense_Mutation_p.D605N	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	810	PWI.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTTAGATGATGTTGCCAT	0.259000													19	50					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145441198	145441198	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441198C>T	uc001enn.4	+	7	1497	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	TXNIP_uc010oys.2_Missense_Mutation_p.L331F	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCCTGCATCCTCAACAACAA	0.393000													15	24					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49653359	49653359	+	Silent	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr19:49653359G>C	uc002pmr.3	+	28	3881	c.3549G>C	c.(3547-3549)cgG>cgC	p.R1183R	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.R1042R|PPFIA3_uc002pmt.3_Silent_p.R322R|PPFIA3_uc002pmu.1_Silent_p.R232R	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	1183						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGTTCCCGGGCAGACGGCG	0.652000													4	17					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943629	1943629	+	Silent	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:1943629G>A	uc001qjt.2	+	4	1661	c.855G>A	c.(853-855)ccG>ccA	p.P285P	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.P285P|LRTM2_uc010sdx.1_Silent_p.P285P|LRTM2_uc001qjv.2_Silent_p.P47P	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	285						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGCTGAGCCGGAGCCGGAGC	0.672000													24	49					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1722002	1722002	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:1722002C>T	uc001aif.3	-	8	894	c.531G>A	c.(529-531)acG>acA	p.T177T	GNB1_uc009vky.3_Silent_p.T77T	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	177					Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TAAACGTGGTCGTCTGCTGGC	0.542000													12	35					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104101	44104101	+	Missense_Mutation	SNP	C	C	T	rs45545532	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:44104101C>T	uc010qfc.2	+	2	258	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ZNF485_uc010qfd.2_Intron	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGCCTTTACCCGGATTGAGTG	0.562000													4	31					0	0	1	0	0
FAM190B	54462	broad.mit.edu	37	10	86131742	86131742	+	Missense_Mutation	SNP	A	A	G	rs145634898		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:86131742A>G	uc010qmd.1	+	1	1128	c.934A>G	c.(934-936)Act>Gct	p.T312A	FAM190B_uc001kdg.1_Missense_Mutation_p.T312A|FAM190B_uc001kdh.1_Missense_Mutation_p.T312A			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	312										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TGTAACTTCTACTTTAGGTTA	0.408000													6	120					0	0	1	0	0
C16orf7	9605	broad.mit.edu	37	16	89777078	89777078	+	Missense_Mutation	SNP	G	G	A	rs56288641	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:89777078G>A	uc002fom.1	-	9	1299	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	C16orf7_uc002fol.1_Missense_Mutation_p.R322W|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	392				R -> P (in Ref. 1; BAA76711).	ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGGCCCTGCCGCTCAGACGTC	0.682000													3	26					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145441200	145441200	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441200C>T	uc001enn.4	+	7	1499	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	TXNIP_uc010oys.2_Silent_p.L331L	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATG	0.393000													14	24					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887332	60887332	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:60887332C>T	uc002ycq.3	-	68	9468	c.9401G>A	c.(9400-9402)cGc>cAc	p.R3134H	LAMA5_uc021wfw.1_Missense_Mutation_p.R3134H	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3134	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCGCCAGGCGAAGGAAGCC	0.682000													3	24					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10946802	10946802	+	Silent	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr19:10946802T>C	uc002mpy.3	-	0	182	c.66A>G	c.(64-66)ggA>ggG	p.G22G		NM_006858	NP_006849	Q13445	TMED1_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 1 (TMED1), mRNA.	22					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCCCCGCCCCTCCCACCTCCA	0.687000													3	5					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40805725	40805725	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr22:40805725G>C	uc003ayu.1	+	21	2421	c.2212G>C	c.(2212-2214)Gtg>Ctg	p.V738L	SGSM3_uc011aot.1_Missense_Mutation_p.V649L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	738					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GGACATGCTGGTGAAGCACCA	0.667000													35	92					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614574	27614574	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:27614574T>A	uc002hdy.4	-	1	527	c.438A>T	c.(436-438)aaA>aaT	p.K146N	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	146						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TAATTCCTGCTTTCCCAAAGG	0.408000													14	78					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186281	37186281	+	RNA	SNP	G	G	C	rs4795331	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:37186281G>C	uc002hrd.1	+	0		c.123G>C								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TACAGCTCAGGTCTCAGGGCC	0.537000													4	47					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74813264	74813264	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:74813264G>C	uc021ptk.1	-	4	580	c.548C>G	c.(547-549)aCg>aGg	p.T183R	P4HA1_uc010qka.2_Missense_Mutation_p.T183R|P4HA1_uc001jth.3_Missense_Mutation_p.T183R|P4HA1_uc001jtg.3_Missense_Mutation_p.T183R|P4HA1_uc010qkb.2_Missense_Mutation_p.T183R|P4HA1_uc021ptj.1_Missense_Mutation_p.T183R	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	183						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCACAGTTCCGTATGGTAATA	0.403000													11	88					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162804174	162804174	+	Silent	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:162804174T>C	uc002ubx.4	+	16	2386	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F	SLC4A10_uc010zcs.2_Silent_p.F715F|SLC4A10_uc002uby.4_Silent_p.F704F	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	734					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCTGTTCTTTTCCACAGTTA	0.413000													31	88					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934953	28934953	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr18:28934953G>A	uc002kwp.3	+	14	3006	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	DSG1_uc010xbp.2_Missense_Mutation_p.G291S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	932					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAACTTCCGGCATGATAGG	0.468000													65	165					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986790	118986790	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:118986790C>T	uc001pvn.3	+	13	2307	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	C2CD2L_uc001pvo.3_Missense_Mutation_p.R649C	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	649						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCTCATCTTCCGCCGGAGGCC	0.637000													8	42					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897957	205897957	+	Silent	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:205897957G>A	uc001hdp.3	-	7	1065	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.R317R	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	317						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577000													15	39					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283812	159283812	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:159283812C>G	uc010piu.2	-	0	638	c.638G>C	c.(637-639)gGc>gCc	p.G213A		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAGACCAGGCCCATAGGTAG	0.502000													44	81					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647580	152647580	+	Silent	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:152647580G>A	uc021zhb.1	-	76	15367	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_uc003qot.4_Silent_p.N4977N|SYNE1_uc003qou.4_Silent_p.N5048N|SYNE1_uc010kiz.3_Silent_p.N803N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5048					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCTCCAGGTTACTATGGA	0.512000										HNSCC(10;0.0054)			19	42					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103341383	103341383	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:103341383C>T	uc022ajr.1	-	8	1036	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_uc022ajq.1_Silent_p.A292A|RELN_uc010liz.3_Silent_p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358000													12	58					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:109523652G>T	uc010sxi.2	+	12	1574	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	USP30_uc001tnu.4_Silent_p.L459L|USP30_uc001tnw.4_Silent_p.L207L	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	490					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597000													5	34					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882523	51882523	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:51882523G>T	uc001rys.1	+	17	2505	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	SLC4A8_uc001rym.3_Missense_Mutation_p.G723V|SLC4A8_uc001ryn.3_Missense_Mutation_p.G723V|SLC4A8_uc001ryo.2_Missense_Mutation_p.G723V|SLC4A8_uc010snj.2_Missense_Mutation_p.G803V|SLC4A8_uc001ryr.3_Missense_Mutation_p.G776V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	776					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AATCCCATTGGCCCCAATCCC	0.393000													27	73					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342294	60342294	+	RNA	SNP	A	A	C	rs76100965		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:60342294A>C	uc010woz.2	-	13		c.1835T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TAAGTTTAACAAAAAATAAAA	0.483000													12	96					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4771182	4771182	+	Missense_Mutation	SNP	C	C	T	rs145831009	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:4771182C>T	uc002wld.3	-	5	506	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Missense_Mutation_p.R151H	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	151					cell cycle|signal transduction	nucleus	protein binding	p.R150C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATTGCCACGGCGACGCACCCC	0.592000													8	18					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50136206	50136206	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:50136206G>T	uc002efw.3	+	13	1942	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	HEATR3_uc002efx.3_Missense_Mutation_p.D508Y|HEATR3_uc021thw.1_Missense_Mutation_p.D136Y	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	594							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TACCACCAAAGATCCTTCCCT	0.398000													32	79					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48777609	48777609	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr15:48777609G>A	uc001zwx.2	-	29	4069	c.3674C>T	c.(3673-3675)cCg>cTg	p.P1225L		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1225	EGF-like 19; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCAAATCCCGGCTGACAGCT	0.428000													15	55					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000													5	55					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100287665	100287665	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:100287665G>C	uc003dua.1	+	6	836	c.637_splice	c.e6-1	p.I213_splice	TMEM45A_uc003dtz.1_Splice_Site_p.I197_splice|TMEM45A_uc003dub.1_5'Flank	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	197						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTAAATTACAGATTGGATTTG	0.348000													13	47					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211582	38211582	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:38211582C>G	uc010abx.3	-	10	2642	c.2407G>C	c.(2407-2409)Gat>Cat	p.D803H	TRPC4_uc010abv.3_Missense_Mutation_p.D378H|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.D798H|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.D625H|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	798	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L802L(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGGTTAAATCAAAAAGGCTG	0.463000													22	50					0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813100	88813100	+	Missense_Mutation	SNP	G	G	A	rs3811816	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr4:88813100G>A	uc010iko.1	+	0	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		CTATTCCAACGAGGAGATTTT	0.463000													5	58					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Missense_Mutation	SNP	G	G	A	rs4968502	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:60351457G>A	uc002izq.2	-	1	132	c.20C>T	c.(19-21)gCg>gTg	p.A7V	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CCAACTACCCGCGACCTCTAC	0.537000													11	208					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27606853	27606855	+	In_Frame_Del	DEL	TCT	TCT	-	rs112297510		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:27606853_27606855delTCT	uc002rkl.3	-	5	1137_1139	c.930_932delAGA	c.(928-933)gaagag>gag	p.310_311EE>E	PPM1G_uc002rkm.3_In_Frame_Del_p.91_92EE>E	NM_177983	NP_817092	O15355	PPM1G_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA.	310	Asp/Glu-rich (acidic).|Poly-Glu.				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					caccatcatctcttcttcttctt	0.522													2	4	---	---	---	---					
PTPRN2	5799	broad.mit.edu	37	7	158380277	158380277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:158380277delG	uc003wno.3	-	0	206	c.85delC	c.(85-87)cgcfs	p.R29fs	PTPRN2_uc003wnp.3_Frame_Shift_Del_p.R29fs|PTPRN2_uc003wnq.3_Frame_Shift_Del_p.R29fs|PTPRN2_uc003wnr.3_Frame_Shift_Del_p.R29fs	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	29						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCCGGCCGCGGGGGACGGAC	0.761													2	4	---	---	---	---					
PDS5B	23047	broad.mit.edu	37	13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:33226030delT	uc010abf.3	+	2	384	c.198delT	c.(196-198)gatfs	p.D66fs	PDS5B_uc001uun.3_Frame_Shift_Del_p.D66fs|PDS5B_uc001uuo.3_Frame_Shift_Del_p.D66fs|PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	66					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTGCTTCAGATTTTTTTCTCA	0.383													32	82	---	---	---	---					
