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
SCIMP	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr17:5126666A>G	uc002gbh.2	-	1	140	c.107T>C	c.(106-108)cTc>cCc	p.L36P	LOC100130950_uc002gbf.2_Non-coding_Transcript|LOC100130950_uc002gbg.2_Non-coding_Transcript|SCIMP_uc010clb.1_Missense_Mutation_p.L36P|SCIMP_uc002gbi.2_Missense_Mutation_p.L36P	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN	Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.	36						integral to membrane											GTACAGGATGAGGCCCAGACC	0.512000													5	381					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr6:157525128C>A	uc003qqn.3	+	18	5143	c.5143C>A	c.(5143-5145)Cag>Aag	p.Q1715K	ARID1B_uc003qqo.3_Missense_Mutation_p.Q1675K|ARID1B_uc003qqp.3_Missense_Mutation_p.Q1662K	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1662					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438000													6	395					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:15713197T>C	uc001rcv.2	+	16	3168	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcy.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	900						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313000													3	120					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:38755465C>G	uc003ciq.3	-	20	3788	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1263					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCTTCAAATCGAGAAAGAGC	0.537000													8	86					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:119229634T>C	uc003ica.2	-	7	1635	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	530	SRCR 4.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408000													3	124					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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				36	58					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:180651511C>T	uc001goi.3	+	1	277	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_uc009wxm.2_Silent_p.L29L|XPR1_uc009wxn.3_Silent_p.L29L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	29	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328000													5	173					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:154145568A>G	uc001fec.1	-	3	602	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.Y36H|TPM3_uc001fdy.1_Missense_Mutation_p.Y126H|TPM3_uc001fdz.1_Missense_Mutation_p.Y126H|TPM3_uc001fea.1_Missense_Mutation_p.Y126H|TPM3_uc001feb.1_Missense_Mutation_p.Y126H|TPM3_uc010pej.1_Missense_Mutation_p.Y59H|TPM3_uc001fed.1_Missense_Mutation_p.Y126H	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	162					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								47	89					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr10:12160774G>A	uc001ild.4	+	14	2528	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	810					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.G810D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483000													5	278					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:2718675C>T	uc003zho.2	+	0	1150	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	312						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687000													5	64					0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:2260148C>T	uc010bsh.3	-	2	550	c.315G>A	c.(313-315)gcG>gcA	p.A105A	C16orf79_uc002cpi.2_Silent_p.A105A	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	105	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGAACAGCACCGCCCAGCTGT	0.711000													7	9					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:183518272C>T	uc003fly.2	+	23	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1115					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473000													16	51					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078068	81078069	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078068_81078069AC>TG	uc002ffz.1	+	3	1983_1984	c.1965_1966AC>TG	c.(1963-1968)gaactt>gaTGtt	p.655_656EL>DV	ATMIN_uc002fga.2_Missense_Mutation_p.497_498EL>DV|ATMIN_uc010vnn.1_Missense_Mutation_p.426_427EL>DV|ATMIN_uc002fgb.1_Missense_Mutation_p.497_498EL>DV	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	655					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCAT	0.505000													6	106					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:84118642G>C	uc002fhi.3	-	9	1734	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	411	Serine protease.				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.S411*(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602000											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	64					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:31682443A>G	uc011kae.2	+	10	1549	c.1537A>G	c.(1537-1539)Agc>Ggc	p.S513G	CCDC129_uc011kad.1_Missense_Mutation_p.S497G|CCDC129_uc003tcj.1_Missense_Mutation_p.S487G|CCDC129_uc003tci.1_Missense_Mutation_p.S338G|CCDC129_uc003tck.1_Missense_Mutation_p.S395G	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512000													3	162					0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:21481080C>G	uc003zpg.3	-	0	1233	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	205					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413000													4	195					0	0	1	0	0
SCIMP	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr17:5126666A>G	uc002gbh.2	-	1	140	c.107T>C	c.(106-108)cTc>cCc	p.L36P	LOC100130950_uc002gbf.2_Non-coding_Transcript|LOC100130950_uc002gbg.2_Non-coding_Transcript|SCIMP_uc010clb.1_Missense_Mutation_p.L36P|SCIMP_uc002gbi.2_Missense_Mutation_p.L36P	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN	Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.	36						integral to membrane											GTACAGGATGAGGCCCAGACC	0.512000													5	381					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr6:157525128C>A	uc003qqn.3	+	18	5143	c.5143C>A	c.(5143-5145)Cag>Aag	p.Q1715K	ARID1B_uc003qqo.3_Missense_Mutation_p.Q1675K|ARID1B_uc003qqp.3_Missense_Mutation_p.Q1662K	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1662					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438000													6	395					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr12:15713197T>C	uc001rcv.2	+	16	3168	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcy.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	900						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313000													3	120					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr3:38755465C>G	uc003ciq.3	-	20	3788	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1263					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCTTCAAATCGAGAAAGAGC	0.537000													8	86					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr4:119229634T>C	uc003ica.2	-	7	1635	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	530	SRCR 4.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408000													3	124					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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				36	58					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:180651511C>T	uc001goi.3	+	1	277	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_uc009wxm.2_Silent_p.L29L|XPR1_uc009wxn.3_Silent_p.L29L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	29	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328000													5	173					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:154145568A>G	uc001fec.1	-	3	602	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.Y36H|TPM3_uc001fdy.1_Missense_Mutation_p.Y126H|TPM3_uc001fdz.1_Missense_Mutation_p.Y126H|TPM3_uc001fea.1_Missense_Mutation_p.Y126H|TPM3_uc001feb.1_Missense_Mutation_p.Y126H|TPM3_uc010pej.1_Missense_Mutation_p.Y59H|TPM3_uc001fed.1_Missense_Mutation_p.Y126H	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	162					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								47	89					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr10:12160774G>A	uc001ild.4	+	14	2528	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	810					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.G810D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483000													5	278					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:2718675C>T	uc003zho.2	+	0	1150	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	312						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687000													5	64					0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:2260148C>T	uc010bsh.3	-	2	550	c.315G>A	c.(313-315)gcG>gcA	p.A105A	C16orf79_uc002cpi.2_Silent_p.A105A	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	105	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGAACAGCACCGCCCAGCTGT	0.711000													7	9					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr3:183518272C>T	uc003fly.2	+	23	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1115					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473000													16	51					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078068	81078069	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:81078068_81078069AC>TG	uc002ffz.1	+	3	1983_1984	c.1965_1966AC>TG	c.(1963-1968)gaactt>gaTGtt	p.655_656EL>DV	ATMIN_uc002fga.2_Missense_Mutation_p.497_498EL>DV|ATMIN_uc010vnn.1_Missense_Mutation_p.426_427EL>DV|ATMIN_uc002fgb.1_Missense_Mutation_p.497_498EL>DV	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	655					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCAT	0.505000													6	106					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:84118642G>C	uc002fhi.3	-	9	1734	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	411	Serine protease.				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.S411*(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602000											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	64					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr7:31682443A>G	uc011kae.2	+	10	1549	c.1537A>G	c.(1537-1539)Agc>Ggc	p.S513G	CCDC129_uc011kad.1_Missense_Mutation_p.S497G|CCDC129_uc003tcj.1_Missense_Mutation_p.S487G|CCDC129_uc003tci.1_Missense_Mutation_p.S338G|CCDC129_uc003tck.1_Missense_Mutation_p.S395G	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512000													3	162					0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:21481080C>G	uc003zpg.3	-	0	1233	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	205					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413000													4	195					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:151584734_151584735insGGC	uc001eyn.1	+	0	73_74	c.57_58insGGC	c.(55-60)insGGC	p.25_26insG		NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	25					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738													7	2	---	---	---	---