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	ENST00000322110.5	+	1	222	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V53I(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	ENST00000522909.1	-	6	780	c.596T>C	c.(595-597)aTt>aCt	p.I199T	PPP1R42_ENST00000324682.5_Missense_Mutation_p.I199T			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	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	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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	ENST00000393331.3	-	6	774	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			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	ENST00000261038.5	+	4	1223	c.825A>C	c.(823-825)agA>agC	p.R275S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	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	ENST00000378588.4	+	8	929	c.862T>A	c.(862-864)Ttt>Att	p.F288I	CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	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			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	ENST00000497933.1	+	1	774	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	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	ENST00000377564.3	+	7	1342	c.949T>A	c.(949-951)Tca>Aca	p.S317T	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S317T	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	317	Laminin G-like 1.			LS -> PT (in Ref. 1; BAB14861/BAB70782).	cell adhesion|signal transduction	integral to membrane	receptor binding	p.S317T(1)		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	ENST00000367868.3	-	6	1098	c.755T>C	c.(754-756)aTt>aCt	p.I252T	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	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
DSCAM	1826	broad.mit.edu	37	21	41551004	41551004	+	Nonsense_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.chr21:41551004G>A	ENST00000400454.1	-	15	3274	c.2797C>T	c.(2797-2799)Cag>Tag	p.Q933*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	933	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGTTCTCTGAGCAGAATCC	0.448000													14	35					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	ENST00000355585.4	+	25	3599	c.3524A>T	c.(3523-3525)gAg>gTg	p.E1175V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1175							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			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	ENST00000376745.4	-	4	588	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	147					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	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	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	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
SNHG14	0	broad.mit.edu	37	15	25415809	25415809	+	RNA	SNP	C	C	T	rs2739838	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.chr15:25415809C>T	ENST00000549301.1	+	0	323				SNHG14_ENST00000553149.1_RNA																							CTGCACTGAGCTGTGGTGAGC	0.622000													9	105					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	ENST00000527614.1	-	8	1090	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	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	ENST00000272371.2	-	9	910	c.784G>A	c.(784-786)Gag>Aag	p.E262K	OTOF_ENST00000403946.3_Missense_Mutation_p.E262K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	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	ENST00000405006.4	-	29	4477	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	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
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	ENST00000371153.4	-	8	2919	c.2539_splice	c.e8-1	p.G847_splice	KANK4_ENST00000354381.3_Splice_Site_p.G219_splice|KANK4_ENST00000371150.1_Splice_Site_p.G203_splice|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	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					0.014758	0.0151179	1	1	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	ENST00000241356.4	-	2	1300	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	299					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A299T(1)		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					1.87028e-06	2.01415e-06	1	1	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	ENST00000372585.5	+	3	554	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A151A|SLC22A7_ENST00000372574.3_Silent_p.A151A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	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	ENST00000261973.7	+	18	2713	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	810	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	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	ENST00000369317.4	+	8	1490	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	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	ENST00000334186.4	+	29	3898	c.3549G>C	c.(3547-3549)cgG>cgC	p.R1183R	PPFIA3_ENST00000602351.1_Silent_p.R1174R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	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	0	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	ENST00000543818.1	+	5	1697	c.855G>A	c.(853-855)ccG>ccA	p.P285P	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.P285P|LRTM2_ENST00000299194.1_Silent_p.P285P|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	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	ENST00000378609.4	-	9	862	c.531G>A	c.(529-531)acG>acA	p.T177T		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	177					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|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	ENST00000361807.3	+	3	258	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.R22W	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	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
CCSER2	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	ENST00000224756.8	+	2	1119	c.934A>G	c.(934-936)Act>Gct	p.T312A	CCSER2_ENST00000359979.4_Missense_Mutation_p.T312A|CCSER2_ENST00000372088.2_Missense_Mutation_p.T312A	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TGTAACTTCTACTTTAGGTTA	0.408000													6	120					0	0	1	0	0
VPS9D1	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	ENST00000561976.1	-	9	1341	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	VPS9D1_ENST00000389386.3_Missense_Mutation_p.R392W					VPS9 domain containing 1																		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	ENST00000369317.4	+	8	1492	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	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	ENST00000252999.3	-	69	9467	c.9401G>A	c.(9400-9402)cGc>cAc	p.R3134H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	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
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	ENST00000248929.9	+	22	2401	c.2212G>C	c.(2212-2214)Gtg>Ctg	p.V738L		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	738					cell cycle arrest|Rap protein signal transduction	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	ENST00000225388.4	-	2	496	c.438A>T	c.(436-438)aaA>aaT	p.K146N	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	146						nucleus|polysomal ribosome	protein binding|RNA 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	0	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	ENST00000425901.2	+	0	123					NR_033753.2																						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	ENST00000412021.2	-	7	881	c.548C>G	c.(547-549)aCg>aGg	p.T183R	P4HA1_ENST00000373008.2_Missense_Mutation_p.T183R|P4HA1_ENST00000307116.2_Missense_Mutation_p.T183R|P4HA1_ENST00000263556.3_Missense_Mutation_p.T183R|P4HA1_ENST00000440381.1_Missense_Mutation_p.T183R|P4HA1_ENST00000394890.2_Missense_Mutation_p.T183R	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	183						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid 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	ENST00000375514.5	+	17	2432	c.2145T>C	c.(2143-2145)ttT>ttC	p.F715F	SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000415876.2_Silent_p.F704F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	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	ENST00000257192.4	+	15	3006	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	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	ENST00000336702.3	+	14	2307	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	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	ENST00000367135.3	-	8	1064	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_ENST00000340781.4_Silent_p.R317R|SLC26A9_ENST00000367134.2_Silent_p.R317R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	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	ENST00000332217.5	-	1	637	c.638G>C	c.(637-639)gGc>gCc	p.G213A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	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	ENST00000367255.5	-	79	15745	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000423061.1_Silent_p.N4977N|SYNE1_ENST00000448038.1_Silent_p.N4977N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5048					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	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	ENST00000257548.5	+	13	1563	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	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					0.000602214	0.000640329	1	1	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	ENST00000453097.2	+	18	2544	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	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					6.12954e-19	6.77475e-19	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	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.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													4	0					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	ENST00000379400.3	-	7	647	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R151H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					cell cycle|signal transduction	nucleus	protein binding			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	ENST00000299192.7	+	14	1971	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	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					1.74807e-11	1.90698e-11	1	1	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	ENST00000316623.5	-	30	4129	c.3674C>T	c.(3673-3675)cCg>cTg	p.P1225L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	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
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	ENST00000403410.1	+	7	1256		c.e7-1		TMEM45A_ENST00000323523.4_Splice_Site			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							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	ENST00000379705.3	-	11	3249	c.2392G>C	c.(2392-2394)Gat>Cat	p.D798H	TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.D803H|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.D625H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.D625H|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	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			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
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	ENST00000344034.4	-	6	1194_1196	c.930_932delAGA	c.(928-933)gag>ga	p.EE310del	PPM1G_ENST00000350803.4_In_Frame_Del_p.EE310del	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	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	---	---	---	---					
RP11-155G15.2	0	broad.mit.edu	37	5	96705000	96705000	+	RNA	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.chr5:96705000delG	ENST00000504578.1	+	0	71																											CAAGGCCCCTGGGGTGAACAG	0.572													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	ENST00000389413.3	-	1	188	c.85delC	c.(85-87)gcfs	p.R29fs	PTPRN2_ENST00000389416.4_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000389418.4_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000409483.1_Frame_Shift_Del_p.R29fs	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	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	ENST00000315596.10	+	3	384	c.198delT	c.(196-198)gafs	p.D66fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	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	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22545744	22545755	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-			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.chr16:22545744_22545755delTCCACCCTCAGC	ENST00000424340.1	+	7	1719_1730	c.1440_1451delTCCACCCTCAGC	c.(1438-1452)ctt>ct	p.LPPSA480del	NPIPB5_ENST00000517539.1_In_Frame_Del_p.LPPSA480del|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571													59	47	---	---	---	---