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
ARRB2	409	broad.mit.edu	37	17	4621224	4621224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:4621224C>T	ENST00000269260.2	+	8	760	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ARRB2_ENST00000412477.3_Missense_Mutation_p.P197L|ARRB2_ENST00000381488.6_Missense_Mutation_p.P161L|ARRB2_ENST00000346341.2_Missense_Mutation_p.P161L|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.P176L|ARRB2_ENST00000574954.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	176					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	p.P176L(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CAGTTCGCCCCGGAGAAACCC	0.632000													13	12					0	0	0.016723	0	0
WWC2	80014	broad.mit.edu	37	4	184182392	184182392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:184182392C>A	ENST00000403733.3	+	11	1815	c.1616C>A	c.(1615-1617)gCc>gAc	p.A539D	WWC2_ENST00000504005.1_Missense_Mutation_p.A221D|WWC2_ENST00000378925.3_Missense_Mutation_p.A441D|WWC2_ENST00000448232.2_Missense_Mutation_p.A539D|WWC2_ENST00000513834.1_Missense_Mutation_p.A539D	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	539								p.A539D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGGCTGAGGCCCCGAAGTCT	0.597000													5	16					3.09899e-07	4.27284e-07	0.004482	1	0
ATP6V1C2	245973	broad.mit.edu	37	2	10914974	10914974	+	Silent	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:10914974T>A	ENST00000381661.3	+	9	808	c.699T>A	c.(697-699)atT>atA	p.I233I	ATP6V1C2_ENST00000272238.4_Silent_p.I233I	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	233					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.I233I(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GAAAAGTGATTGAAGATTTCA	0.498000													26	216					0	0	0.006320	0	0
CCPG1	9236	broad.mit.edu	37	15	55652008	55652008	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr15:55652008C>T	ENST00000310958.6	-	8	2261	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	CCPG1_ENST00000569205.1_Missense_Mutation_p.E655K|CCPG1_ENST00000442196.3_Missense_Mutation_p.E655K|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	655					cell cycle	integral to membrane		p.E655K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGTCTAAATTCATCCATCCTT	0.358000													6	51					0	0	0.001984	0	0
GSE1	23199	broad.mit.edu	37	16	85699584	85699584	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:85699584C>T	ENST00000253458.7	+	13	2937	c.2761C>T	c.(2761-2763)Cca>Tca	p.P921S	GSE1_ENST00000405402.2_Missense_Mutation_p.P817S|GSE1_ENST00000393243.1_Missense_Mutation_p.P848S	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.P921S(1)									TCTAAAAGAACCAGCCACGCA	0.498000													19	57					0	0	0.007413	0	0
DCTN1	1639	broad.mit.edu	37	2	74597184	74597184	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:74597184G>C	ENST00000361874.3	-	13	1617	c.1300C>G	c.(1300-1302)Ctg>Gtg	p.L434V	DCTN1_ENST00000409438.1_Missense_Mutation_p.L300V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L417V|DCTN1_ENST00000409240.1_Missense_Mutation_p.L397V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L414V|DCTN1_ENST00000407639.2_Missense_Mutation_p.L300V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L427V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	434					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.L434V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGCACCCAGAGCAGCATCC	0.542000													53	138					0	0	0.014410	0	0
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													3	133					0	0	0.001984	0	0
MBD5	55777	broad.mit.edu	37	2	149228015	149228015	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:149228015A>G	ENST00000407073.1	+	9	3500	c.2503A>G	c.(2503-2505)Aca>Gca	p.T835A	MBD5_ENST00000404807.1_Missense_Mutation_p.T835A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	835						chromosome|nucleus	chromatin binding|DNA binding	p.T835A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTATAATCAAACAAGTTCTGA	0.333000													20	50					0	0	0.008871	0	0
NONO	4841	broad.mit.edu	37	X	70517741	70517741	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chrX:70517741A>C	ENST00000535149.1	+	7	1460	c.817A>C	c.(817-819)Atg>Ctg	p.M273L	NONO_ENST00000373841.1_Missense_Mutation_p.M362L|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.M362L|NONO_ENST00000373856.3_Missense_Mutation_p.M362L	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	362	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	p.M362L(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCAAGAAGAAATGATGCGGCG	0.522000			T	TFE3	papillary renal cancer								5	53					0	0	0.003080	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851496	102851496	+	Silent	SNP	C	C	T	rs35960329	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:102851496C>T	ENST00000264257.2	+	11	1563	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.D479D|IL1RL2_ENST00000441515.2_Silent_p.D361D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	479	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.D479D(1)|p.D361D(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGATCCAGGACGGGATGAAGG	0.502000													57	110					0	0	0.014410	0	0
DENND3	22898	broad.mit.edu	37	8	142176386	142176386	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr8:142176386G>A	ENST00000519811.1	+	12	1721	c.1651G>A	c.(1651-1653)Gtc>Atc	p.V551I	DENND3_ENST00000424248.1_Missense_Mutation_p.V419I|DENND3_ENST00000262585.2_Missense_Mutation_p.V471I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	471								p.V471I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGCATGGTGGTCAGCATGCC	0.602000													78	164					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158627413	158627413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:158627413G>A	ENST00000368148.3	-	19	2839	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R887*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	887					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R887*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTAGCAGCTCGAGCACGGAGA	0.473000													43	125					0	0	0.013114	0	0
INSRR	3645	broad.mit.edu	37	1	156823801	156823801	+	Missense_Mutation	SNP	G	G	A	rs55757706	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:156823801G>A	ENST00000368195.3	-	2	776	c.380C>T	c.(379-381)gCa>gTa	p.A127V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	127			A -> E (in dbSNP:rs55757706).		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.A127V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGGCAGTGCCACGTCACG	0.627000													13	28					0	0	0.020292	0	0
RXRG	6258	broad.mit.edu	37	1	165380300	165380300	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:165380300C>A	ENST00000359842.5	-	5	971	c.669G>T	c.(667-669)gaG>gaT	p.E223D	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	223	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E223D(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CACATTCTGCCTCACTCTCAG	0.502000													40	64					1.8453e-21	2.70842e-21	0.010771	1	0
OR4B1	119765	broad.mit.edu	37	11	48238768	48238768	+	Missense_Mutation	SNP	G	G	A	rs149306992		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:48238768G>A	ENST00000309562.2	+	1	425	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTATCAGTCGTCAACTGTGT	0.473000													37	76					0	0	0.005524	0	0
CCNA2	890	broad.mit.edu	37	4	122741887	122741887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:122741887T>A	ENST00000274026.5	-	4	907	c.604A>T	c.(604-606)Aaa>Taa	p.K202*		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	202					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	p.K202*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCTGGCTGTTTCTTCATGTAA	0.333000													62	96					0	0	0.014410	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr9:21971209T>A	ENST00000579755.1	-	2	486		c.e2-2		CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	4					0	0	0.013537	0	0
TLX3	30012	broad.mit.edu	37	5	170736693	170736693	+	Silent	SNP	A	A	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:170736693A>T	ENST00000296921.5	+	1	406	c.324A>T	c.(322-324)ctA>ctT	p.L108L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L108L(1)		central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGCGCGCTACCCGCCATGC	0.687000			T	BCL11B	T-ALL								11	49					0	0	0.010729	0	0
SNORA7B	677797	broad.mit.edu	37	3	129116166	129116166	+	RNA	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:129116166G>C	ENST00000384360.1	-	0	25				RPL32P3_ENST00000514355.1_RNA	NR_002992.2																						ATACTAGGCAGTCTCCAGATG	0.542000													3	212					0	0	0.004672	0	0
CCDC129	223075	broad.mit.edu	37	7	31617968	31617968	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:31617968G>C	ENST00000409210.1	+	6	998	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.E364Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.E390Q			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	364								p.E364Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACTCAGAAGGAGAACTTATT	0.507000													16	48					0	0	0.006122	0	0
CSE1L	1434	broad.mit.edu	37	20	47682732	47682732	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:47682732G>A	ENST00000262982.2	+	4	355	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	CSE1L_ENST00000396192.3_Missense_Mutation_p.E78K|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	78	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.E78K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTTTTAGGTTGAAGATGAACC	0.368000													26	44					0	0	0.006320	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988085	42988085	+	Silent	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:42988085A>C	ENST00000252115.5	-	7	1001	c.897T>G	c.(895-897)ctT>ctG	p.L299L	POLDIP3_ENST00000348657.2_Silent_p.L270L|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.L143L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	299	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	p.L299L(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACACACAGAAAAGCTCCTGCA	0.572000													39	129					0	0	0.010771	0	0
EXPH5	23086	broad.mit.edu	37	11	108384669	108384669	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:108384669C>T	ENST00000265843.4	-	6	1675	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.G334D|EXPH5_ENST00000428840.1_Missense_Mutation_p.G446D|EXPH5_ENST00000525344.1_Missense_Mutation_p.G515D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	522					intracellular protein transport		Rab GTPase binding	p.G522D(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACATTATGGCCATGAATGGC	0.403000													39	58					0	0	0.006999	0	0
STK35	140901	broad.mit.edu	37	20	2097560	2097560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:2097560G>T	ENST00000381482.3	+	3	1412	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	STK35_ENST00000246032.3_Missense_Mutation_p.D248Y|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	381	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	p.D381Y(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CAAAGTGGCCGACTTTGGACT	0.517000													28	39					5.45727e-16	7.88272e-16	0.008361	1	0
USP7	7874	broad.mit.edu	37	16	9009171	9009171	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:9009171G>A	ENST00000344836.4	-	10	1216	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	USP7_ENST00000535863.1_Missense_Mutation_p.R241W|USP7_ENST00000381886.4_Missense_Mutation_p.R324W	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	340					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R340W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTATCAGACCGATAGTCTACT	0.303000													36	75					0	0	0.005524	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383064	39383064	+	Missense_Mutation	SNP	G	G	A	rs140426018		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:39383064G>A	ENST00000377721.3	+	1	165	c.158G>A	c.(157-159)cGc>cAc	p.R53H	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.R53H	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	53	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding	p.R53H(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.647000													18	84					0	0	0.015359	0	0
ASL	435	broad.mit.edu	37	7	65554160	65554160	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:65554160C>T	ENST00000304874.9	+	12	1018	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	AC068533.7_ENST00000450043.1_Missense_Mutation_p.A74V|ASL_ENST00000380839.4_Missense_Mutation_p.R280W|ASL_ENST00000395331.3_Missense_Mutation_p.R306W|ASL_ENST00000395332.3_Missense_Mutation_p.R306W	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	306					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.R306W(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TGTGTTTGGGCGGGTGAGCAA	0.682000													17	63					0	0	0.004990	0	0
UNC13C	440279	broad.mit.edu	37	15	54825193	54825193	+	Silent	SNP	A	A	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr15:54825193A>T	ENST00000545554.1	+	25	5625	c.5625A>T	c.(5623-5625)acA>acT	p.T1875T	UNC13C_ENST00000537900.1_Silent_p.T1873T|UNC13C_ENST00000260323.11_Silent_p.T1875T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T1875T(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAACACCACATCTAATAAGA	0.308000													5	5					0	0	0.001984	0	0
GRM1	2911	broad.mit.edu	37	6	146720225	146720225	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:146720225C>T	ENST00000392299.2	+	8	2520	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C	GRM1_ENST00000507907.1_Missense_Mutation_p.R684C|GRM1_ENST00000492807.2_Missense_Mutation_p.R684C|GRM1_ENST00000361719.2_Missense_Mutation_p.R684C|GRM1_ENST00000282753.1_Missense_Mutation_p.R684C|GRM1_ENST00000355289.4_Missense_Mutation_p.R684C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	684					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R684C(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCGTATTGCACGCATCCTGGC	0.527000													105	103					0	0	0.014410	0	0
OR4A16	81327	broad.mit.edu	37	11	55110931	55110931	+	Silent	SNP	T	T	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:55110931T>C	ENST00000314721.2	+	1	305	c.255T>C	c.(253-255)tgT>tgC	p.C85C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C85C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTTACTCTGTGATAAAATCG	0.448000													14	214					0	0	0.003163	0	0
NTN5	126147	broad.mit.edu	37	19	49173881	49173881	+	Silent	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:49173881C>A	ENST00000270235.4	-	2	458	c.363G>T	c.(361-363)gtG>gtT	p.V121V	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	121						extracellular region		p.V121V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGTGGAAGGTCACCCTTTCAG	0.697000													3	4					0.004672	0.00616162	0.004672	1	0
HIST1H3E	8353	broad.mit.edu	37	6	26225700	26225700	+	Silent	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:26225700G>A	ENST00000360408.1	+	1	318	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E106E(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCTTTTCGAGGACACCAACC	0.577000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	109					0	0	0.006214	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734993	140734993	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:140734993G>A	ENST00000571252.1	+	1	226	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTTTCGCCCTGAACCC	0.632000													34	109					0	0	0.019004	0	0
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592000													5	364					0	0	0.003080	0	0
SETX	23064	broad.mit.edu	37	9	135140265	135140265	+	Silent	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr9:135140265G>T	ENST00000372169.2	-	27	7664	c.7482C>A	c.(7480-7482)ctC>ctA	p.L2494L	SETX_ENST00000393220.1_Silent_p.L2432L|SETX_ENST00000224140.5_Silent_p.L2465L|SETX_ENST00000477049.1_5'UTR			Q7Z333	SETX_HUMAN	senataxin	2465					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L2465L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCACAGGCTTGAGTTTCAGAA	0.502000													5	165					5.50884e-06	7.48215e-06	0.013537	1	0
IL17RE	132014	broad.mit.edu	37	3	9950949	9950949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:9950949C>T	ENST00000454190.2	+	8	869	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	IL17RE_ENST00000421412.1_Nonsense_Mutation_p.Q295*|IL17RE_ENST00000295980.3_Nonsense_Mutation_p.Q262*|IL17RE_ENST00000383814.3_Nonsense_Mutation_p.Q262*	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	262						cytoplasm|extracellular region|integral to membrane	receptor activity	p.Q262*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ATGTCCCTTCCAGAGCTGGCC	0.537000													9	22					0	0	0.008291	0	0
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													4	44					0	0	0.009096	0	0
TNPO1	3842	broad.mit.edu	37	5	72196889	72196889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:72196889G>A	ENST00000337273.5	+	22	2929	c.2503G>A	c.(2503-2505)Ggc>Agc	p.G835S	TNPO1_ENST00000454282.1_Missense_Mutation_p.G785S|TNPO1_ENST00000506351.2_Missense_Mutation_p.G827S|TNPO1_ENST00000523768.1_Missense_Mutation_p.G785S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	835					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.G827S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GAATCCCAGTGGCGTAATCCA	0.313000													14	27					0	0	0.016723	0	0
PABPC3	5042	broad.mit.edu	37	13	25671090	25671090	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr13:25671090A>G	ENST00000281589.3	+	1	791	c.754A>G	c.(754-756)Aat>Gat	p.N252D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	252	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.N252D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGATGAGATGAATGGAAAGGA	0.403000													56	60					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:7578466G>A	ENST00000420246.2	-	5	596	c.464C>T	c.(463-465)aCc>aTc	p.T155I	TP53_ENST00000413465.2_Missense_Mutation_p.T155I|TP53_ENST00000455263.2_Missense_Mutation_p.T155I|TP53_ENST00000269305.4_Missense_Mutation_p.T155I|TP53_ENST00000445888.2_Missense_Mutation_p.T155I|TP53_ENST00000359597.4_Missense_Mutation_p.T155I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)		GCGGACGCGGGTGCCGGGCGG	0.612000		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)			6	71					0	0	0.001168	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540678	169540678	+	Nonsense_Mutation	SNP	T	T	A	rs13062420		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:169540678T>A	ENST00000340806.6	+	1	969	c.969T>A	c.(967-969)tgT>tgA	p.C323*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	323								p.C323*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCAGATCTGTGCACTGAAGA	0.557000													10	18					0	0	0.006214	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473962	145473962	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:145473962G>T	ENST00000323397.4	+	4	1927	c.634G>T	c.(634-636)Gac>Tac	p.D212Y		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	212								p.D212Y(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGAAGCGGGACGTATTTGA	0.602000													62	136					1.17004e-41	1.77457e-41	0.014410	1	0
SH3TC2	79628	broad.mit.edu	37	5	148407707	148407707	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:148407707G>C	ENST00000538184.1	-	7	1117	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	SH3TC2_ENST00000394358.2_Missense_Mutation_p.L415V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L523V|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L530V			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	530							binding	p.L415V(1)|p.L530V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGCAGAGACGGGCATGG	0.542000													58	170					0	0	0.014410	0	0
GPR125	166647	broad.mit.edu	37	4	22389442	22389442	+	Silent	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:22389442G>A	ENST00000334304.5	-	19	4121	c.3852C>T	c.(3850-3852)aaC>aaT	p.N1284N	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1284					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.N1284N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAATGGCCAAGTTGAGGCCAT	0.433000													16	65					0	0	0.004990	0	0
NUTM2A-AS1	728190	broad.mit.edu	37	10	88975800	88975800	+	RNA	SNP	C	C	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:88975800C>G	ENST00000451940.2	-	0	600																											TAGCGGTATCCAGCTTGGTGG	0.577000													8	28					0	0	0.006214	0	0
PFKP	5214	broad.mit.edu	37	10	3178698	3178698	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:3178698T>C	ENST00000381075.2	+	24	2482	c.2258T>C	c.(2257-2259)cTg>cCg	p.L753P	PFKP_ENST00000381125.4_Missense_Mutation_p.L761P|PFKP_ENST00000381072.1_Missense_Mutation_p.L179P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	761					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.L753P(1)|p.L761P(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATGAAAATCCTGGCCAAGTAC	0.587000													13	26					0	0	0.020292	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951309	30951309	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:30951309G>C	ENST00000402321.1	-	3	1220	c.903C>G	c.(901-903)aaC>aaG	p.N301K	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.N301K|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.N301K			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	301					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.N301K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGTCCAGCATGTTCCAGGCGG	0.706000													9	13					0	0	0.013537	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730354	15730354	+	RNA	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:15730354G>T	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.G133W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCCTGGCTGGGTAAGTAACT	0.547000													17	42					2.35188e-11	3.34408e-11	0.006122	1	0
PCDH17	27253	broad.mit.edu	37	13	58208287	58208287	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr13:58208287C>A	ENST00000377918.3	+	1	1633	c.1607C>A	c.(1606-1608)gCc>gAc	p.A536D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	536	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A536D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCATCTACGCCCTGCGCTCC	0.582000													22	84					1.50538e-07	2.10753e-07	0.006320	1	0
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378000													3	130					0	0	0.004672	0	0
USP14	9097	broad.mit.edu	37	18	197634	197634	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr18:197634A>C	ENST00000261601.6	+	8	704	c.613A>C	c.(613-615)Ata>Cta	p.I205L	USP14_ENST00000400266.3_Missense_Mutation_p.I194L|USP14_ENST00000582707.1_Missense_Mutation_p.I170L|USP14_ENST00000383589.2_Missense_Mutation_p.I159L	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	205					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I205L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGAATGTTGGATACAAATGAT	0.318000													10	50					0	0	0.010729	0	0
IFRD2	7866	broad.mit.edu	37	3	50330118	50330118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:50330118C>A	ENST00000336089.4	-	2	186	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding	p.D63Y(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCCGAAGCGTCCCTCAGTGGA	0.657000													41	52					1.39843e-22	2.08618e-22	0.014410	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	34					0	0	0.004672	0	0
PCNXL3	399909	broad.mit.edu	37	11	65403699	65403699	+	Silent	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:65403699A>G	ENST00000355703.3	+	33	6053	c.5514A>G	c.(5512-5514)tcA>tcG	p.S1838S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1838	Gly-rich.					integral to membrane		p.S1838S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGATGATTCAGACTGTAGTG	0.637000													2	10					0	0	0.004672	0	0
FMO3	2328	broad.mit.edu	37	1	171083304	171083304	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:171083304A>G	ENST00000367755.4	+	7	1096	c.985A>G	c.(985-987)Aca>Gca	p.T329A	FMO3_ENST00000538429.1_Missense_Mutation_p.T266A|FMO3_ENST00000542847.1_Missense_Mutation_p.T309A|FMO3_ENST00000392085.2_Missense_Mutation_p.T329A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	329					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.T329A(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATCTTTGCAACAGGGTATAG	0.408000													33	67					0	0	0.006230	0	0
FOXI1	2299	broad.mit.edu	37	5	169533097	169533097	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:169533097C>T	ENST00000449804.2	+	1	181	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	FOXI1_ENST00000306268.6_Missense_Mutation_p.R46W	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	46	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.R46W(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCCTCAGCGGCCCTCCTT	0.687000									Pendred syndrome				6	90					0	0	0.001984	0	0
FBXL7	23194	broad.mit.edu	37	5	15936591	15936591	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:15936591C>T	ENST00000504595.1	+	4	1253	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	FBXL7_ENST00000510662.1_Missense_Mutation_p.R211W|FBXL7_ENST00000329673.7_Missense_Mutation_p.R246W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R258W(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGCTTGACCCGGGAGGCCTC	0.582000													65	29					0	0	0.014410	0	0
RBMX	27316	broad.mit.edu	37	X	135958803	135958803	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chrX:135958803A>G	ENST00000562646.1	-	5	554	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	RBMX_ENST00000565438.1_Missense_Mutation_p.Y6H|RBMX_ENST00000320676.7_Missense_Mutation_p.Y134H|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	134						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Y134H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCATGGAATATCCACCGTCA	0.383000													24	281					0	0	0.018920	0	0
VIPAS39	63894	broad.mit.edu	37	14	77895357	77895357	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:77895357C>T	ENST00000553888.1	-	18	1858	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	VIPAS39_ENST00000327028.4_Missense_Mutation_p.V437I|VIPAS39_ENST00000448935.2_Missense_Mutation_p.V401I|VIPAS39_ENST00000343765.2_Missense_Mutation_p.V450I|VIPAS39_ENST00000557658.1_Missense_Mutation_p.V450I|VIPAS39_ENST00000556412.1_Missense_Mutation_p.V476I	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog									p.V450I(1)									ACATCAATGACGACATCATGG	0.468000													29	80					0	0	0.017118	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:65688807G>A	ENST00000335257.6	+	9	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557000													46	96					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3779782	3779782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:3779782G>A	ENST00000262367.5	-	31	6075	c.5266C>T	c.(5266-5268)Cag>Tag	p.Q1756*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1718*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1756	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q1756*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCTCGCCCTGGCTGCTGCCC	0.622000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						13	18					0	0	0.004990	0	0
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	RNA	DEL	A	A	-	rs71401156		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													5	4	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													8	163	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													9	13	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17764530	17764531	+	Frame_Shift_Del	DEL	CT	CT	-	rs9371018	by1000genomes	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:17764530_17764531delCT	ENST00000378814.5	-	37	5083_5084	c.5084_5085delAG	c.(5083-5085)gfs	p.E1695fs	KIF13A_ENST00000378816.5_Frame_Shift_Del_p.E1708fs|KIF13A_ENST00000378826.2_Frame_Shift_Del_p.E1708fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.E1695fs|KIF13A_ENST00000259711.6_Frame_Shift_Del_p.E1743fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1743					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AATCTTTTCCCTCTGACACTCC	0.500													21	44	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345611	100345611	+	RNA	DEL	A	A	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:100345611delA	ENST00000542585.1	+	0	1171				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			caagactctgaaaaaaaaaaa	0.502													3	4	---	---	---	---					
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)del	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739													2	4	---	---	---	---					
SERPINA4	5267	broad.mit.edu	37	14	95035754	95035754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:95035754delA	ENST00000557004.1	+	5	1527	c.1106delA	c.(1105-1107)gcfs	p.D369fs	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Frame_Shift_Del_p.D369fs|SERPINA4_ENST00000298841.5_Frame_Shift_Del_p.D369fs			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	369					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCACCTTGGACGTGGATGAG	0.567													16	33	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18043881	18043915	+	Frame_Shift_Del	DEL	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:18043881_18043915delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	ENST00000205890.5	+	20	5600_5634	c.5262_5296delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	c.(5260-5298)cgagfs	p.RLGKSSSVTRLYK1754fs	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1754	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACAC	0.664											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	158	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													3	6	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													4	2	---	---	---	---					
