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
RNF181	51255	broad.mit.edu	37	2	85822893	85822893	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:85822893T>C	uc002spv.1	+	0	57	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	Homo sapiens ring finger protein 181 (RNF181), mRNA.	3							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						AGCCATGGCGTCCTATTTCGA	0.642000													6	41					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101491747	101491747	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:101491747G>A	uc001kqb.4	-	0	677	c.60C>T	c.(58-60)ctC>ctT	p.L20L	COX15_uc001kqc.4_Silent_p.L20L|COX15_uc010qpj.2_5'UTR|CUTC_uc010qpk.2_5'Flank|CUTC_uc001kqd.4_5'Flank|CUTC_uc001kqe.4_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	20					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAGGAGCCAGGAGCGGCAGAT	0.612000													5	15					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39955456	39955456	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:39955456G>A	uc002olo.4	+	10	822	c.643G>A	c.(643-645)Gta>Ata	p.V215I	SUPT5H_uc002olp.4_Missense_Mutation_p.V215I|SUPT5H_uc002olq.4_Missense_Mutation_p.V211I|SUPT5H_uc002oln.4_Missense_Mutation_p.V215I|SUPT5H_uc002olr.4_Missense_Mutation_p.V215I|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	215	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATCAAGTCAGTAGTGGCACC	0.572000													7	181					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734477	37734477	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37734477G>A	uc002oft.1	+	7	1919	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ZNF383_uc002ofs.1_Missense_Mutation_p.E382K|ZNF383_uc002ofu.1_Missense_Mutation_p.E447K	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGTGAAAAGCCCTA	0.348000													66	54					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38470949	38470949	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr22:38470949G>A	uc003auq.3	+	12	1448	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	PICK1_uc003aur.3_Missense_Mutation_p.R353Q|PICK1_uc003aus.3_Missense_Mutation_p.R353Q|PICK1_uc003aut.3_Missense_Mutation_p.R353Q	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	353	AH.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGTGCTGCGGGATGCCGAC	0.617000													28	36					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351701	134351701	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:134351701C>T	uc004can.4	+	14	4240	c.4185C>T	c.(4183-4185)tcC>tcT	p.S1395S	PRRC2B_uc010mzj.1_Silent_p.S978S|PRRC2B_uc004cao.4_Silent_p.S753S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1395							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCCTGGGTCCGAGCCCGACT	0.647000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	80					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000													4	26					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57795055	57795055	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:57795055G>C	uc002emq.3	-	14	2098	c.1901C>G	c.(1900-1902)aCg>aGg	p.T634R	KIFC3_uc010vhw.2_Missense_Mutation_p.T532R|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.T495R|KIFC3_uc010vhx.2_Missense_Mutation_p.T492R|KIFC3_uc010cdf.3_Missense_Mutation_p.T495R|KIFC3_uc002emo.4_Missense_Mutation_p.T495R|KIFC3_uc010vhy.2_Missense_Mutation_p.T576R|KIFC3_uc002emp.3_Missense_Mutation_p.T634R|KIFC3_uc010vhz.2_Missense_Mutation_p.T656R	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	634	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GAACTCGGTCGTGCGATTAGT	0.632000													11	87					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320810	52320810	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:52320810C>A	uc003xqu.4	-	16	3475	c.3374G>T	c.(3373-3375)aGg>aTg	p.R1125M	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1125					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGAAGAGCCTCTGGGTCAG	0.577000													27	99					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149395011	149395011	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr6:149395011C>A	uc003qmg.3	+	7	1276	c.980C>A	c.(979-981)aCt>aAt	p.T327N		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	327					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GTGAAGAAGACTGTCCCCTCT	0.527000													17	39					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266213	65266213	+	RNA	SNP	A	A	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:65266213A>T	uc010roh.2	+	0		c.981A>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		GAGGTATTTTAAAAGTTCCGG	0.378000													13	152					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150478148	150478148	+	Silent	SNP	C	C	A	rs146012895		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:150478148C>A	uc001euq.3	+	16	1982	c.1975C>A	c.(1975-1977)Cgg>Agg	p.R659R	TARS2_uc001eur.3_Silent_p.R577R|TARS2_uc009wlt.3_Silent_p.R285R|TARS2_uc009wls.3_Silent_p.R529R|ECM1_uc021oyd.1_5'Flank|ECM1_uc010pcf.2_5'Flank|ECM1_uc010pce.2_5'Flank|ECM1_uc001eus.3_5'Flank|ECM1_uc001eut.3_5'Flank|ECM1_uc001euv.3_5'Flank|ECM1_uc009wlu.3_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	659					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GAGAATCCGCCGGGCCCAGCT	0.557000													5	98					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413573	68413573	+	RNA	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:68413573G>A	uc004aex.3	+	0		c.128G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CAGTGGCGCCGGATCTAGGAA	0.597000													5	30					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57882857	57882857	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57882857C>T	uc001sog.3	+	1	319	c.165C>T	c.(163-165)agC>agT	p.S55S	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	55					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AGCTGGATAGCGGCAACTACC	0.483000													11	78					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7075	7075	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrM:7075G>A	uc011mfh.2	+	0	1175	c.174G>A	c.(172-174)agG>agA	p.R58R	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		TGCCATCATAGGAGGCTTCAT	0.423000													20	104					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103788	53103788	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:53103788G>A	uc003tpz.3	+	0	440	c.424G>A	c.(424-426)Gcg>Acg	p.A142T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATCGGGATCGCGCCCCCTGA	0.721000													10	50					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:178936092A>C	uc003fjk.3	+	9	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	19					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121732502	121732502	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:121732502C>A	uc010flp.3	+	7	1215	c.1185C>A	c.(1183-1185)ggC>ggA	p.G395G	GLI2_uc002tmq.1_Silent_p.G67G|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.G67G|GLI2_uc002tmu.4_Intron|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Intron	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	395					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTTTTCAGGGCCAGGTGTCTG	0.567000													15	72					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691937	109691937	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:109691937A>G	uc004bcz.3	+	2	6033	c.5744A>G	c.(5743-5745)aAt>aGt	p.N1915S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.N1763S|ZNF462_uc004bda.3_Missense_Mutation_p.N1763S|ZNF462_uc011lvz.2_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1915					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACATTCACAATGAGGAATTC	0.493000													17	47					0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23654275	23654275	+	Splice_Site	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:23654275G>C	uc002dly.2	+	2	226	c.49_splice	c.e2-1	p.A17_splice	PALB2_uc002dlx.1_5'Flank|DCTN5_uc021tfh.1_Splice_Site_p.A17_splice|DCTN5_uc021tfi.1_Splice_Site|DCTN5_uc021tfj.1_Splice_Site_p.A17_splice	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	Homo sapiens dynactin 5 (p25) (DCTN5), transcript variant 1, mRNA.	17						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TTTTCTTTTAGGCATCTGGGA	0.443000													15	78					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97847356	97847356	+	Missense_Mutation	SNP	G	G	T	rs113098340		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:97847356G>T	uc003yhw.3	+	2	755	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	CPQ_uc010mbe.2_Missense_Mutation_p.V197L	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	197					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										AGCTGCCAAGGTGGGGGCTTT	0.478000													5	70					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937916	21937916	+	RNA	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:21937916G>A	uc010tzj.1	-	0		c.2824C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATTTCTGGCCGTTCCTTTTCT	0.443000													21	698					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665945	157665945	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:157665945C>A	uc001fqz.4	-	6	1309	c.1017G>T	c.(1015-1017)ctG>ctT	p.L339L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.L65L|FCRL3_uc001frb.3_Silent_p.L339L|FCRL3_uc001frc.1_Silent_p.L339L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	339	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.S338Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTCTGCCAACAGGGAACGCT	0.522000													22	65					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154186393	154186393	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:154186393C>G	uc001fei.2	-	3	706	c.316G>C	c.(316-318)Gct>Cct	p.A106P	C1orf43_uc001feg.2_Missense_Mutation_p.A72P|C1orf43_uc001feh.2_Intron|C1orf43_uc009wos.1_Intron|C1orf43_uc001fek.3_Missense_Mutation_p.A106P	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	106						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCATCCAGAGCTTTCATCCTA	0.488000													32	103					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000													6	110					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574727	53574727	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53574727G>T	uc004dsp.3	-	67	10945	c.10543C>A	c.(10543-10545)Cca>Aca	p.P3515T	HUWE1_uc004dsn.3_Missense_Mutation_p.P2323T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3515	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCAGGGCTGGAGCAGAAGTG	0.592000													8	29					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786361	127786361	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:127786361C>T	uc003ekb.3	+	9	1257	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	RUVBL1_uc003ekf.3_Intron|SEC61A1_uc003ekc.3_Missense_Mutation_p.P305L|SEC61A1_uc003ekd.3_Missense_Mutation_p.P238L|SEC61A1_uc003ekg.3_Missense_Mutation_p.P52L	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	358					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TTAGAAGACCCGGTCCATGCA	0.512000													14	96					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214339	140214339	+	Missense_Mutation	SNP	A	A	G	rs61730624		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140214339A>G	uc003lhq.2	+	0	371	c.371A>G	c.(370-372)aAg>aGg	p.K124R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.K124R	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	139	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTGAAGGACATTAAC	0.607000													20	227					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148718139	148718139	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:148718139T>C	uc003wff.2	-	1	471	c.189A>G	c.(187-189)ggA>ggG	p.G63G		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	63	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGACCAAGACTCCATTTTCTT	0.418000													7	22					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120652778	120652778	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:120652778C>T	uc001txv.3	-	7	1312	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	PXN_uc001txu.3_Silent_p.T188T|PXN_uc001txx.3_Silent_p.T209T|PXN_uc001txt.3_Silent_p.T376T|PXN_uc001txy.3_Silent_p.T342T|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	376	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGTGCCACGTCTTCCCCA	0.642000													5	29					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135521992	135521992	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:135521992C>T	uc003yup.3	-	15	3548	c.3362_splice	c.e15-1	p.G1121_splice	ZFAT_uc011ljj.2_Splice_Site_p.G240_splice|ZFAT_uc003yun.3_Splice_Site_p.G1109_splice|ZFAT_uc003yuo.3_Splice_Site_p.G1109_splice|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Splice_Site_p.G1059_splice|ZFAT_uc010mei.3_Splice_Site|ZFAT_uc003yuq.3_Splice_Site_p.G1109_splice	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGTCGGTCGCCTTAAGAGGA	0.587000													26	144					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45636162	45636162	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr14:45636162C>A	uc001wwd.4	+	10	1897	c.1798C>A	c.(1798-1800)Cag>Aag	p.Q600K	FANCM_uc001wwc.2_Missense_Mutation_p.Q600K|FANCM_uc010anf.3_Missense_Mutation_p.Q574K|FANCM_uc001wwe.4_Missense_Mutation_p.Q136K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	600	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTTATAATCAGAGTCAGTC	0.279000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	41					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896248	13896248	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:13896248G>A	uc003bye.1	-	2	656	c.351C>T	c.(349-351)caC>caT	p.H117H		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	117					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTGTGATGGCGTGGGCCACGC	0.642000													21	93					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408631	107408631	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:107408631G>T	uc004enw.4	-	37	3883	c.3780C>A	c.(3778-3780)gaC>gaA	p.D1260E	COL4A6_uc004env.4_Missense_Mutation_p.D1259E|COL4A6_uc011msn.2_Missense_Mutation_p.D1235E|COL4A6_uc010npk.3_Missense_Mutation_p.D1235E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1260	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCGCCCGGGGTCACCAGGCT	0.557000									Alport syndrome with Diffuse Leiomyomatosis				30	126					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26434431	26434431	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:26434431C>A	uc001isn.2	+	21	2833	c.2473C>A	c.(2473-2475)Ctt>Att	p.L825I	MYO3A_uc009xko.1_Missense_Mutation_p.L825I|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	825	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAATGGAACTTAGTTTTGG	0.328000													5	29					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99539092	99539092	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:99539092T>C	uc003yio.3	-	11	1753	c.1279A>G	c.(1279-1281)Aag>Gag	p.K427E	STK3_uc003yip.3_Missense_Mutation_p.K399E	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	399					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AAGTCTTGCTTATCAAAGTAG	0.363000													20	60					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123265	81123265	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:81123265C>G	uc010ijo.3	+	7	1488	c.649C>G	c.(649-651)Cag>Gag	p.Q217E	PRDM8_uc003hmb.4_Missense_Mutation_p.Q217E|PRDM8_uc003hmc.4_Missense_Mutation_p.Q217E	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcagcagcagcagGAGGCACC	0.672000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	90					0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921416	24921416	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:24921416G>A	uc001ywo.3	+	0	876	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	134					cell differentiation|multicellular organismal development|spermatogenesis			p.P133P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTGAGCCGGCGGTCAAGGCCA	0.632000													8	57					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10066584	10066584	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:10066584C>A	uc004csx.4	+	7	894	c.696C>A	c.(694-696)gtC>gtA	p.V232V	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	232										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TAGACCGAGTCAGACTTAATT	0.368000													8	26					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798315	38798315	+	Silent	SNP	T	T	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:38798315T>G	uc003ciq.3	-	8	1140	c.1140A>C	c.(1138-1140)gtA>gtC	p.V380V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	380					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)	CCAGGAAGATTACGAGCACAA	0.463000													18	140					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092527	101092527	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:101092527A>T	uc011mrk.1	-	14	1379	c.1019T>A	c.(1018-1020)gTg>gAg	p.V340E	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	340	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CCACATGTCCACCAGGATGGA	0.562000													51	177					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226109286	226109286	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:226109286C>T	uc010pvj.2	-	3	532	c.377G>A	c.(376-378)cGc>cAc	p.R126H	PYCR2_uc001hpq.3_Missense_Mutation_p.R200H			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	125					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GATTGCCAGGCGCCGTGGCAA	0.572000													25	47					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53575115	53575115	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53575115G>A	uc004dsp.3	-	67	10557	c.10155C>T	c.(10153-10155)tgC>tgT	p.C3385C	HUWE1_uc004dsn.3_Silent_p.C2193C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3385					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAAGTCTGTGCAAATGCCAC	0.532000													5	19					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245572	73245572	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:73245572C>G	uc003tzi.4	+	0	380	c.41C>G	c.(40-42)gCc>gGc	p.A14G	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	14					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATCGCGCTGGCCGTCCTGGGC	0.657000													8	99					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:7578265A>G	uc002gim.2	-	5	778	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	39					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64519437	64519437	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:64519437C>T	uc001oax.4	-	13	2544	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	PYGM_uc001oay.4_Missense_Mutation_p.R488Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	576					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.R576Q(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGGAGCTGTCGTTTATATTC	0.517000													9	83					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53162588	53162588	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:53162588C>A	uc001sax.3	-	8	1880	c.1826G>T	c.(1825-1827)gGa>gTa	p.G609V		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	609	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCACTTCCTCCAGAAGTCTG	0.582000													15	97					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605195	47605195	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:47605195G>A	uc002xtx.4	+	17	2681	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	ARFGEF2_uc010zyf.2_Silent_p.K136K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	843					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATCTACTAAGCAGAGTAAGG	0.323000													14	64					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74036495	74036495	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr14:74036495A>G	uc001xon.4	+	0	724	c.551A>G	c.(550-552)cAg>cGg	p.Q184R	ACOT2_uc010tuc.2_Intron|ACOT2_uc001xom.3_Intron	NM_006821	NP_006812	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 2 (ACOT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.Q184R(2)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTGCTGTGCCAGACGCGGCAC	0.736000													3	5					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798278	148798278	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:148798278G>A	uc004fdq.3	+	4	1287	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	MAGEA11_uc004fdr.3_Missense_Mutation_p.D349N	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	378	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCCCGGCACTGATCCTGCATG	0.557000													60	227					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943228	55943228	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:55943228C>T	uc010qhy.1	-	13	1976	c.1581G>A	c.(1579-1581)atG>atA	p.M527I	PCDH15_uc010qhq.2_Missense_Mutation_p.M527I|PCDH15_uc010qhr.2_Missense_Mutation_p.M522I|PCDH15_uc021pqv.1_Missense_Mutation_p.M522I|PCDH15_uc021pqw.1_Missense_Mutation_p.M534I|PCDH15_uc010qht.2_Missense_Mutation_p.M529I|PCDH15_uc021pqx.1_Missense_Mutation_p.M522I|PCDH15_uc001jjv.1_Missense_Mutation_p.M500I|PCDH15_uc021pqy.1_Missense_Mutation_p.M522I|PCDH15_uc021pqz.1_Missense_Mutation_p.M500I|PCDH15_uc010qhv.1_Missense_Mutation_p.M522I|PCDH15_uc010qhw.1_Missense_Mutation_p.M485I|PCDH15_uc010qhx.1_Missense_Mutation_p.M522I|PCDH15_uc010qhz.1_Missense_Mutation_p.M522I|PCDH15_uc010qia.1_Missense_Mutation_p.M500I|PCDH15_uc001jju.1_Missense_Mutation_p.M522I|PCDH15_uc010qib.1_Missense_Mutation_p.M500I|PCDH15_uc001jjw.3_Missense_Mutation_p.M522I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	522	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCAGGTCTCATGTCTGTAT	0.378000										HNSCC(58;0.16)			4	59					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249749	119249749	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:119249749G>T	uc004esk.1	-	0	99	c.24C>A	c.(22-24)gaC>gaA	p.D8E	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	8					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						AGAACACGGTGTCGTGGACGA	0.607000													21	77					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940357	82940357	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:82940357G>A	uc003kim.3	-	2	671	c.600C>T	c.(598-600)ggC>ggT	p.G200G	HAPLN1_uc003kin.3_Silent_p.G200G	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	200	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AGTCCAGCCCGCCCCGCCAGG	0.622000													16	50					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351378	89351378	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:89351378C>A	uc002fmx.1	-	8	2033	c.1572G>T	c.(1570-1572)tcG>tcT	p.S524S	ANKRD11_uc002fmy.1_Silent_p.S524S|ANKRD11_uc002fnc.1_Silent_p.S524S|ANKRD11_uc002fnb.1_Silent_p.S481S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	524	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCCGTGAGACGAGGTGGAGG	0.622000													4	68					0	0	1	0	0
C19orf46	163183	broad.mit.edu	37	19	36499487	36499487	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:36499487C>G	uc002ocq.1	-	0	186	c.97G>C	c.(97-99)Gtc>Ctc	p.V33L	C19orf46_uc021utd.1_Missense_Mutation_p.V33L|C19orf46_uc002ocr.1_Missense_Mutation_p.V33L|C19orf46_uc002ocs.1_Missense_Mutation_p.V33L|C19orf46_uc010een.1_Missense_Mutation_p.R3P	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	33					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGGGCAGACGGTGCATCCA	0.652000													10	166					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117054245	117054245	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:117054245A>G	uc011mtp.2	-	3	471	c.338T>C	c.(337-339)gTc>gCc	p.V113A	KLHL13_uc004eqk.3_Missense_Mutation_p.V59A|KLHL13_uc004eql.3_Missense_Mutation_p.V110A|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.V104A|KLHL13_uc011mtq.2_Missense_Mutation_p.V94A|KLHL13_uc004eqm.3_Missense_Mutation_p.V68A|KLHL13_uc022cde.1_Missense_Mutation_p.V94A	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	110	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCATCATGACTCTATGCAC	0.418000													27	95					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386441	56386441	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:56386441C>T	uc002ivx.4	-	21	5063	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1338R|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1398R	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1398						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAACTAATCCAGGCATGTCT	0.652000													46	105					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348375	58348375	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:58348375G>A	uc002yau.3	+	5	1260	c.793G>A	c.(793-795)Gac>Aac	p.D265N	PHACTR3_uc002yat.3_Missense_Mutation_p.D262N|PHACTR3_uc010zzw.2_Missense_Mutation_p.D224N|PHACTR3_uc002yav.3_Missense_Mutation_p.D224N|PHACTR3_uc002yaw.3_Missense_Mutation_p.D224N|PHACTR3_uc002yax.3_Missense_Mutation_p.D154N	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	265						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAGAGTGCCGACCCTTCCCT	0.627000													5	162					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931765	23931765	+	Silent	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:23931765C>G	uc001ywk.3	-	0	686	c.600G>C	c.(598-600)gtG>gtC	p.V200V		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	200	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGCGGCCCTTCACGTAGATGA	0.662000									Prader-Willi syndrome				12	46					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754980	140754980	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140754980G>A	uc003ljy.2	+	0	1330	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.D444N	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGTGGCAGACACCAACGA	0.498000													23	161					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210154	37210154	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37210154T>C	uc010xtl.2	+	5	750	c.528T>C	c.(526-528)acT>acC	p.T176T	ZNF567_uc002oeo.1_Silent_p.T176T|ZNF567_uc010xtk.1_Silent_p.T176T|ZNF567_uc002oep.4_Silent_p.T145T|ZNF567_uc002oeq.1_Silent_p.T145T	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACAAGAGACTACTCATCCTG	0.368000													12	46					0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	G	A	rs114681793	by1000genomes	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000													10	52					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000													4	10					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56209012	56209012	+	Silent	SNP	T	T	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:56209012T>A	uc002adj.3	-	0	318	c.18A>T	c.(16-18)cgA>cgT	p.R6R	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Silent_p.R6R|NEDD4_uc010ugj.2_Silent_p.R6R|NEDD4_uc010bfm.3_Silent_p.R6R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	6					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.R6Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAAGTGCAATCGTAAGCTTT	0.443000													11	101					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21100010	21100010	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:21100010C>A	uc001bdy.1	-	3	544	c.444G>T	c.(442-444)caG>caT	p.Q148H	HP1BP3_uc001bdv.1_Missense_Mutation_p.Q110H|HP1BP3_uc001bdw.1_Missense_Mutation_p.Q148H|HP1BP3_uc010odh.1_Missense_Mutation_p.Q110H|HP1BP3_uc001bea.2_Missense_Mutation_p.Q147H|HP1BP3_uc010odg.1_5'UTR	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	148					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GTGTTTGTTTCTGGGCCCTGG	0.423000													17	44					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408897	39408897	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:39408897T>C	uc003gua.3	+	0	425	c.328T>C	c.(328-330)Tgg>Cgg	p.W110R	KLB_uc011byj.2_Missense_Mutation_p.W110R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	110	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCTTCTATATGGGATCATTT	0.413000													16	43					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160801542	160801542	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:160801542C>A	uc002ube.2	-	27	4231	c.4019G>T	c.(4018-4020)gGc>gTc	p.G1340V	PLA2R1_uc010zcp.2_Missense_Mutation_p.G1338V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1340	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCCGAATGCCCCAGTTTGA	0.433000													13	35					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220134932	220134932	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:220134932C>G	uc002vkv.1	+	2	232	c.67C>G	c.(67-69)Cgc>Ggc	p.R23G	TUBA4B_uc002vku.3_Intron					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		AGGCACATACCGCCAGATCTT	0.557000													4	12					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40374023	40374023	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:40374023C>T	uc002omp.4	-	25	12063	c.12055G>A	c.(12055-12057)Gtg>Atg	p.V4019M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4019	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCACACCACGACTTTACCC	0.642000													4	24					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628015	41628015	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:41628015T>A	uc002opu.1	+	5	855	c.799T>A	c.(799-801)Tgc>Agc	p.C267S	CYP2F1_uc021uuv.1_Missense_Mutation_p.C53S|CYP2F1_uc010xvv.1_Missense_Mutation_p.C267S|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	267					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.C267R(4)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CTTCATCCAGTGCTTCCTCAC	0.572000													15	18					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362360	101362360	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:101362360G>A	uc001pgk.4	-	2	1480	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	TRPC6_uc009ywy.3_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.T352M	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	352					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACTCTGGAGCGTTTCAACATC	0.438000													26	61					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111430866	111430866	+	Missense_Mutation	SNP	C	C	T	rs151125401		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:111430866C>T	uc003iab.4	+	4	1439	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	366					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGACTCATCACGTACAGAGAA	0.453000													15	90					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000													15	29					0	0	1	0	0
LYPLA2	11313	broad.mit.edu	37	1	24120731	24120731	+	Silent	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:24120731C>G	uc001bht.3	+	7	508	c.387C>G	c.(385-387)ctC>ctG	p.L129L		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	129					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCCTGTCCCTCTACACGGCCC	0.701000													4	25					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330723	125330723	+	Missense_Mutation	SNP	C	C	T	rs143007621		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:125330723C>T	uc004bmp.1	-	0	34	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATAAACTCGGAGACACTG	0.458000													4	61					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77378907	77378907	+	Silent	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:77378907A>G	uc010ldt.1	+	2	914	c.870A>G	c.(868-870)caA>caG	p.Q290Q		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	290						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGAAGATCAAGCAGCCAAAG	0.368000													10	73					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654969	19654969	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:19654969C>G	uc002nmw.4	+	7	1718	c.1633C>G	c.(1633-1635)Cct>Gct	p.P545A	CILP2_uc002nmv.4_Missense_Mutation_p.P539A	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	539						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.P539S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGTCTTGCCTTTTGATCC	0.602000													16	90					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69553589	69553589	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:69553589G>C	uc002ary.1	+	3	978	c.750G>C	c.(748-750)tgG>tgC	p.W250C		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	250					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTAATGACTGGACTGTGCCAA	0.393000													17	88					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:46184897_46184898delAC	uc001cou.3	-	5	1430_1431	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs	IPP_uc001cos.4_Frame_Shift_Del_p.C388fs	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	68	---	---	---	---					
IGFBP1	3484	broad.mit.edu	37	7	45928490	45928490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:45928490delG	uc003tnp.3	+	0	532	c.239delG	c.(238-240)cggfs	p.R80fs		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	80	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CGCTGCGCCCGGGGACTCAGT	0.756													2	4	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:40715923_40715924delAA	uc010mmk.2	+	0		c.400_401delAA								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													7	39	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63533589	63533591	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:63533589_63533591delTGG	uc002jfi.3	-	5	1852_1854	c.1563_1565delCCA	c.(1561-1566)caccat>cat	p.521_522HH>H	AXIN2_uc002jfh.3_In_Frame_Del_p.521_522HH>H	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	521					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGACGGCATGGTGGTGGATGT	0.655									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				7	94	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48573424	48573425	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr18:48573424_48573425delAT	uc010xdp.2	+	1	546_547	c.8_9delAT	c.(7-9)aatfs	p.N3fs	SMAD4_uc010xdo.1_Non-coding_Transcript	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	3					BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAAATGGACAATATGTCTATTA	0.356													11	20	---	---	---	---					
