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
CCDC3	83643	broad.mit.edu	37	10	12940429	12940429	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:12940429T>C	ENST00000378839.1	-	7	1377	c.425A>G	c.(424-426)tAc>tGc	p.Y142C	CCDC3_ENST00000378825.3_Missense_Mutation_p.Y267C			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	267						endoplasmic reticulum|extracellular region		p.Y267C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCCGCAGGTAGGGGGGGCG	0.647000													8	8					0	0	0.058154	0	0
PTPN12	5782	broad.mit.edu	37	7	77256457	77256457	+	Silent	SNP	C	C	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:77256457C>G	ENST00000248594.6	+	13	1733	c.1461C>G	c.(1459-1461)gtC>gtG	p.V487V	PTPN12_ENST00000415482.2_Silent_p.V368V|PTPN12_ENST00000435495.2_Silent_p.V357V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	487						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	p.V487V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCTAAATGTCGGTGATACTT	0.383000													5	142					0	0	0.014758	0	0
FAM71B	153745	broad.mit.edu	37	5	156592963	156592963	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:156592963C>A	ENST00000302938.4	-	1	312	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	73						nucleus		p.G73C(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGACGATGCCCACTGTCACC	0.483000													12	125					0.00136819	0.0014886	0.093190	1	0
PARK2	5071	broad.mit.edu	37	6	161781119	161781119	+	Splice_Site	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:161781119C>A	ENST00000366898.1	-	11	1388		c.e11+1		PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACAGACTCACCATTTTTTTC	0.522000													35	305					4.14481e-20	4.85943e-20	0.086207	1	0
PIPSL	266971	broad.mit.edu	37	10	95721106	95721106	+	RNA	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:95721106T>C	ENST00000480546.1	-	0	191					NR_002319.2																						TTCTATGGCCTATTTTCTTGA	0.532000													3	138					0	0	0.004672	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000423	46000423	+	Silent	SNP	G	G	A	rs139901000	by1000genomes	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr21:46000423G>A	ENST00000400372.1	-	1	58	c.33C>T	c.(31-33)agC>agT	p.S11S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	11						keratin filament		p.S11S(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGAGCAAGCGCTGGAGCAGA	0.662000													12	115					0	0	0.105934	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044561	9044561	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:9044561G>C	ENST00000382496.5	-	22	3694	c.3029C>G	c.(3028-3030)tCa>tGa	p.S1010*	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1010					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGGGCAGGTGAGACGGGGTG	0.527000													4	270					0	0	0.014758	0	0
SCAI	286205	broad.mit.edu	37	9	127765392	127765392	+	Splice_Site	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:127765392C>A	ENST00000336505.5	-	11	1124		c.e11+1		SCAI_ENST00000373549.4_Splice_Site|SCAI_ENST00000487795.1_Splice_Site	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCACACATACCTTAAAAGAC	0.383000													56	239					3.89483e-19	4.52732e-19	0.048971	1	0
UNC79	57578	broad.mit.edu	37	14	94173127	94173127	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:94173127G>A	ENST00000553484.1	+	51	8005	c.7851G>A	c.(7849-7851)ccG>ccA	p.P2617P	UNC79_ENST00000256339.4_Silent_p.P2418P|UNC79_ENST00000555664.1_Silent_p.P2556P|UNC79_ENST00000393151.2_Silent_p.P2595P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2595						integral to membrane		p.P2418P(1)|p.P2617P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACGCTGCCGGGCTCGGGCC	0.592000													8	84					0	0	0.058154	0	0
AIM1L	55057	broad.mit.edu	37	1	26655271	26655271	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:26655271C>T	ENST00000527815.1	-	15	1835	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	AIM1L_ENST00000308182.5_Missense_Mutation_p.E425K	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	425	Ricin B-type lectin.						sugar binding	p.E596K(1)|p.E425K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTGAAGCCCTCGGCTTGCAGG	0.602000													6	204					0	0	0.021553	0	0
CENPE	1062	broad.mit.edu	37	4	104041347	104041347	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr4:104041347A>T	ENST00000265148.3	-	44	7376	c.7287T>A	c.(7285-7287)aaT>aaA	p.N2429K	CENPE_ENST00000380026.3_Missense_Mutation_p.N2308K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2429	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.N2392K(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAAGGCATTTATTTGATTCAT	0.294000													8	32					0	0	0.038147	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610025	38610025	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:38610025G>A	ENST00000222345.6	+	9	2880	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	791	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.V791I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAAATCCGACGTCTTCAGAGA	0.567000													6	156					0	0	0.021553	0	0
MXD1	4084	broad.mit.edu	37	2	70164438	70164438	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:70164438G>A	ENST00000264444.2	+	5	650	c.390G>A	c.(388-390)aaG>aaA	p.K130K	MXD1_ENST00000540449.1_Silent_p.K120K	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	130					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.K130K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GACACCTGAAGAGGCAGCTGG	0.572000													25	112					0	0	0.041601	0	0
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343000													4	85					0	0	0.009096	0	0
CNDP1	84735	broad.mit.edu	37	18	72250879	72250879	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr18:72250879C>T	ENST00000582365.1	+	10	1329	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	CNDP1_ENST00000358821.3_Silent_p.S464S			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	464					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.S464S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCACAAGAGCGTGGTGCTAA	0.478000													6	128					0	0	0.029380	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716329	52716329	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:52716329G>A	ENST00000322088.6	+	6	831	c.773G>A	c.(772-774)cGc>cAc	p.R258H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R203H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R79H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	258	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.			R -> A (in Ref. 2; AAA36399).	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R258H(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AAGTCCTGGCGCGTCCGCTAC	0.602000			Mis		clear cell ovarian carcinoma								5	39					0	0	0.029380	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	87					0	0	0.004672	0	0
AGAP1	116987	broad.mit.edu	37	2	236659077	236659077	+	Silent	SNP	G	G	A	rs139143512	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:236659077G>A	ENST00000409538.1	+	6	1909	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	AGAP1_ENST00000428334.2_Silent_p.T45T|AGAP1_ENST00000304032.7_Silent_p.T206T|AGAP1_ENST00000336665.5_Silent_p.T206T|AGAP1_ENST00000409457.1_Silent_p.T206T			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	206	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.T206T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACGGTGCACGTACTACGAGA	0.522000													5	179					0	0	0.014758	0	0
NUDT2	318	broad.mit.edu	37	9	34343338	34343338	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:34343338G>A	ENST00000379158.2	+	5	702	c.344G>A	c.(343-345)cGc>cAc	p.R115H	NUDT2_ENST00000379155.5_Missense_Mutation_p.R115H|NUDT2_ENST00000346365.4_Missense_Mutation_p.R115H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	115	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	p.R115H(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGCCTACCGCTGGCTGGGG	0.562000													4	39					0	0	0.020292	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131662	187131662	+	Missense_Mutation	SNP	C	C	T	rs146494374		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr4:187131662C>T	ENST00000378802.4	+	11	1749	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	482					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.S482L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ACCATTCTTTCGTGCATCCTG	0.393000													20	115					0	0	0.069288	0	0
ENPP1	5167	broad.mit.edu	37	6	132203597	132203597	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:132203597G>A	ENST00000360971.2	+	21	2233	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	738	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.G686E(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTGAGTTACGGGTTCCTCTCC	0.383000													44	158					0	0	0.048971	0	0
FBN1	2200	broad.mit.edu	37	15	48818423	48818423	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:48818423T>C	ENST00000316623.5	-	9	1347	c.892A>G	c.(892-894)Atc>Gtc	p.I298V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	298	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.I298V(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTCACAGATTCCAGGAATG	0.403000													3	116					0	0	0.004672	0	0
C1orf173	127254	broad.mit.edu	37	1	75038612	75038612	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:75038612A>T	ENST00000326665.5	-	14	3000	c.2782T>A	c.(2782-2784)Tcg>Acg	p.S928T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	928	Glu-rich.							p.S928T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTCCTCCGATGTCGCTGCC	0.552000													11	184					0	0	0.069234	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627459	41627459	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:41627459G>A	ENST00000331105.2	+	5	653	c.581G>A	c.(580-582)cGt>cAt	p.R194H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	194					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R194H(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GATGATGAGCGTCTGCTCACC	0.562000													19	149					0	0	0.034045	0	0
GRHL3	57822	broad.mit.edu	37	1	24663569	24663569	+	Splice_Site	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:24663569C>T	ENST00000361548.4	+	5	844	c.612_splice	c.e5-1	p.S205_splice	GRHL3_ENST00000356046.2_Splice_Site_p.S159_splice|GRHL3_ENST00000350501.5_Splice_Site_p.S205_splice|GRHL3_ENST00000342072.4_Splice_Site_p.S112_splice|GRHL3_ENST00000236255.4_Splice_Site_p.S210_splice	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	205					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S210L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTCTGCAGTCGATGCTCTTC	0.532000													19	34					0	0	0.055883	0	0
HHAT	55733	broad.mit.edu	37	1	210591515	210591515	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:210591515T>G	ENST00000367010.1	+	7	929	c.702T>G	c.(700-702)caT>caG	p.H234Q	HHAT_ENST00000308852.6_Missense_Mutation_p.H189Q|HHAT_ENST00000391905.3_Missense_Mutation_p.H234Q|HHAT_ENST00000537898.1_Missense_Mutation_p.H169Q|HHAT_ENST00000261458.3_Missense_Mutation_p.H234Q|HHAT_ENST00000413764.2_Missense_Mutation_p.H234Q|HHAT_ENST00000545781.1_Missense_Mutation_p.H171Q|HHAT_ENST00000545154.1_Missense_Mutation_p.H235Q|HHAT_ENST00000541565.1_Missense_Mutation_p.H97Q	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	234					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.H234Q(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		AGCAGGAGCATGACTCCCTGA	0.527000													6	286					0	0	0.021553	0	0
MYH3	4621	broad.mit.edu	37	17	10538773	10538773	+	Silent	SNP	C	C	T	rs151186379		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:10538773C>T	ENST00000583535.1	-	30	4170	c.4083G>A	c.(4081-4083)gcG>gcA	p.A1361A	MYH3_ENST00000226209.7_Silent_p.A1361A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1361					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.A1361A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTGGACAGCGCCCTCTGCA	0.627000													14	217					0	0	0.020292	0	0
TPCN1	53373	broad.mit.edu	37	12	113729448	113729448	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:113729448G>A	ENST00000550785.1	+	25	2379	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H	TPCN1_ENST00000541517.1_Missense_Mutation_p.R737H|TPCN1_ENST00000335509.6_Missense_Mutation_p.R665H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R597H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	665						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.R665H(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CACTGGAGCCGCCTCTACTTC	0.592000													4	20					0	0	0.009096	0	0
CAPN11	11131	broad.mit.edu	37	6	44144683	44144683	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:44144683C>T	ENST00000398776.1	+	11	1223	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	CAPN11_ENST00000542245.1_Silent_p.Y395Y	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	395	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Y395Y(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACCTTCTACGAGGGCAGCT	0.607000													23	185					0	0	0.083992	0	0
CARD11	84433	broad.mit.edu	37	7	2983995	2983995	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:2983995G>A	ENST00000396946.4	-	5	938	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	179					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R172W(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTAGTACCGCTCCTGGAAG	0.577000			Mis		DLBCL								11	180					0	0	0.069234	0	0
SCEL	8796	broad.mit.edu	37	13	78176221	78176221	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:78176221G>A	ENST00000535157.1	+	15	1043	c.873G>A	c.(871-873)ccG>ccA	p.P291P	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Silent_p.P293P|SCEL_ENST00000349847.3_Silent_p.P313P|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	313	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.P313P(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTGGAAGTCCGATTAAAGTTA	0.378000													9	59					0	0	0.069234	0	0
NEK11	79858	broad.mit.edu	37	3	130884337	130884337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:130884337C>T	ENST00000383366.4	+	12	1443	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	NEK11_ENST00000429253.2_Nonsense_Mutation_p.Q384*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.Q384*|NEK11_ENST00000412440.2_Nonsense_Mutation_p.Q236*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.Q384*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.Q384*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.Q279*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.Q384*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.Q384*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	384					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.Q384*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCGGAACTTTCAGCAGCTGAG	0.313000													4	55					0	0	0.014758	0	0
VLDLR	7436	broad.mit.edu	37	9	2635511	2635511	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:2635511G>A	ENST00000382100.2	+	2	497	c.141G>A	c.(139-141)acG>acA	p.T47T	VLDLR_ENST00000382099.2_Silent_p.T47T|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	47	LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.T47T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCTGTATTACGCTGTTGTGGA	0.408000													11	265					0	0	0.105934	0	0
MAP7D2	256714	broad.mit.edu	37	X	20031731	20031731	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:20031731T>G	ENST00000379651.3	-	12	1657	c.1639A>C	c.(1639-1641)Atc>Ctc	p.I547L	MAP7D2_ENST00000543767.1_Missense_Mutation_p.I432L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.I495L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.I502L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.I588L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	547								p.I547L(1)|p.I588L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCTTCATGATTTCATCTATT	0.308000													8	109					0	0	0.038147	0	0
MON1A	84315	broad.mit.edu	37	3	49947622	49947622	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:49947622C>T	ENST00000417270.1	-	5	2026	c.1333G>A	c.(1333-1335)Gtt>Att	p.V445I	MON1A_ENST00000296473.3_Missense_Mutation_p.V534I|MON1A_ENST00000455683.2_Missense_Mutation_p.V372I|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	437							protein binding	p.V437I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTTGGGCAACGCTGTAGTAG	0.627000													4	99					0	0	0.009096	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257635	41257635	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr22:41257635G>A	ENST00000307221.4	-	1	495	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	122					protein folding		heat shock protein binding|unfolded protein binding	p.R122C(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCCTGGACGATTTAACAGG	0.363000													5	158					0	0	0.021553	0	0
USP15	9958	broad.mit.edu	37	12	62783684	62783684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:62783684C>A	ENST00000280377.5	+	14	1818	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*	USP15_ENST00000393654.3_Nonsense_Mutation_p.S562*|USP15_ENST00000353364.3_Nonsense_Mutation_p.S558*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	587					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S558*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTGGTTCTTCACTTTTTGGT	0.393000													7	71					3.86212e-05	4.34089e-05	0.069234	1	0
GH2	2689	broad.mit.edu	37	17	61957888	61957888	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:61957888G>A	ENST00000332800.7	-	4	833	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity	p.H234Y(1)|p.?(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCTGCAAAGTGAAGGAAGAGA	0.542000													6	104					0	0	0.038147	0	0
APOBR	55911	broad.mit.edu	37	16	28509145	28509145	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr16:28509145G>A	ENST00000564831.1	+	2	2816	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	APOBR_ENST00000431282.1_Missense_Mutation_p.R919Q|APOBR_ENST00000328423.5_Missense_Mutation_p.R919Q	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	919	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.R919Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACCGGGGGCCGGAGGGCAGAG	0.647000													3	22					0	0	0.009096	0	0
SLC4A7	9497	broad.mit.edu	37	3	27472895	27472895	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:27472895G>A	ENST00000295736.5	-	7	1087	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	SLC4A7_ENST00000440156.1_Silent_p.A335A|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000445684.1_Silent_p.A335A|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000446700.1_Silent_p.A331A|SLC4A7_ENST00000425128.2_Silent_p.A331A|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000454389.1_Silent_p.A348A	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	339						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.A339A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TATCATCACTGGCAGGTGAAA	0.502000													28	157					0	0	0.041601	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236799	140236799	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:140236799C>T	ENST00000307360.5	+	1	1166	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T389M|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.T389M(6)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTCTGACGCCTCACGTT	0.552000													11	230					0	0	0.080935	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57449913	57449913	+	Translation_Start_Site	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:57449913T>A	ENST00000527985.1	+	0	461				ZDHHC5_ENST00000287169.3_Missense_Mutation_p.Y42N			Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5							integral to membrane	acyltransferase activity|zinc ion binding	p.Y42N(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACTAAGCCTGTATGTGTCACC	0.443000													21	121					0	0	0.076483	0	0
DAPK2	23604	broad.mit.edu	37	15	64263636	64263636	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:64263636G>A	ENST00000261891.3	-	3	444	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	DAPK2_ENST00000558069.1_Missense_Mutation_p.H147Y|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.H147Y			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	147	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	p.H147Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGATCAAAGTGAGCAATTTTC	0.493000													95	192					0	0	0.048971	0	0
VAMP7	6845	broad.mit.edu	37	X	155127856	155127856	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:155127856G>A	ENST00000286448.6	+	4	450	c.285G>A	c.(283-285)caG>caA	p.Q95Q	VAMP7_ENST00000262640.6_Silent_p.Q95Q|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Silent_p.Q54Q	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	95	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.Q95Q(2)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAGAGCACAGACAGCACTTC	0.398000													13	183					0	0	0.024245	0	0
CXorf40A	91966	broad.mit.edu	37	X	148628443	148628443	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:148628443G>C	ENST00000441248.1	+	4	1999	c.412G>C	c.(412-414)Gga>Cga	p.G138R	CXorf40A_ENST00000422892.2_Missense_Mutation_p.G138R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G138R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G138R|CXorf40A_ENST00000450602.2_Missense_Mutation_p.G138R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G138R|CXorf40A_ENST00000428236.1_Missense_Mutation_p.G76R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G138R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G138R|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G138R			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	138							protein binding	p.G138R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCTAGGAAAGGAGGCAAGGA	0.488000													3	82					0	0	0.009096	0	0
AKAP12	9590	broad.mit.edu	37	6	151672021	151672021	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:151672021G>C	ENST00000402676.2	+	4	2735	c.2495G>C	c.(2494-2496)gGg>gCg	p.G832A	AKAP12_ENST00000354675.6_Missense_Mutation_p.G734A|AKAP12_ENST00000253332.1_Missense_Mutation_p.G832A|AKAP12_ENST00000359755.5_Missense_Mutation_p.G727A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	832					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.G832A(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAAGACGCAGGGCCAACAGGG	0.512000													57	220					0	0	0.048971	0	0
MYPN	84665	broad.mit.edu	37	10	69959230	69959230	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:69959230C>T	ENST00000358913.5	+	17	3879	c.3391C>T	c.(3391-3393)Ctg>Ttg	p.L1131L	MYPN_ENST00000540630.1_Silent_p.L1131L|MYPN_ENST00000354393.2_Silent_p.L856L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1131	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding	p.L1131L(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTCCACTCTCTGCTCATTGA	0.552000													6	78					0	0	0.021553	0	0
KLHL20	27252	broad.mit.edu	37	1	173703050	173703050	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:173703050G>A	ENST00000209884.4	+	3	358	c.222G>A	c.(220-222)gtG>gtA	p.V74V	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	74	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.V74V(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGCTAGTTGTGGGCGCCAAGA	0.502000													6	128					0	0	0.029380	0	0
CALD1	800	broad.mit.edu	37	7	134635162	134635162	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:134635162G>A	ENST00000361388.2	+	9	1611	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	CALD1_ENST00000393118.2_Missense_Mutation_p.R376Q|CALD1_ENST00000495522.1_Missense_Mutation_p.R376Q|CALD1_ENST00000361901.2_Missense_Mutation_p.R356Q|CALD1_ENST00000424922.1_Missense_Mutation_p.R350Q|CALD1_ENST00000417172.1_Missense_Mutation_p.R356Q|CALD1_ENST00000361675.2_Missense_Mutation_p.R611Q|CALD1_ENST00000543443.1_Missense_Mutation_p.R361Q|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.R382Q	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	611					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.R611Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATTGAAAGGCGAAGAGCAGAA	0.458000													4	85					0	0	0.009096	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518456	106518456	+	RNA	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:106518456A>G	ENST00000390598.2	-	0	373																											ATTTGCAGATACAGTGAGTTC	0.512000													6	338					0	0	0.021553	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146991890	146991890	+	Silent	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:146991890T>C	ENST00000265272.5	-	20	2858	c.2391A>G	c.(2389-2391)caA>caG	p.Q797Q	JAKMIP2_ENST00000507386.1_Silent_p.Q776Q|JAKMIP2_ENST00000333010.6_Silent_p.Q755Q	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	797						Golgi apparatus		p.Q797Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTTTTATTTGTCTTTTCT	0.308000													3	18					0	0	0.004672	0	0
SPTB	6710	broad.mit.edu	37	14	65239968	65239968	+	Silent	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:65239968C>A	ENST00000389722.3	-	24	5201	c.5148G>T	c.(5146-5148)ccG>ccT	p.P1716P	SPTB_ENST00000389721.5_Silent_p.P1716P|SPTB_ENST00000542895.1_Silent_p.P1716P|SPTB_ENST00000556626.1_Silent_p.P1716P|SPTB_ENST00000389720.3_Silent_p.P1716P	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1716					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.P1716P(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCCATTTCCGGGGAAGAGG	0.542000													6	65					2.0095e-06	2.27743e-06	0.029380	1	0
MYBPHL	343263	broad.mit.edu	37	1	109838959	109838959	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:109838959C>T	ENST00000357155.1	-	6	813	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	255								p.R255Q(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGAGAAGTCTCGTTGGGCAAA	0.557000													11	132					0	0	0.069234	0	0
OR10G7	390265	broad.mit.edu	37	11	123909325	123909325	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:123909325C>T	ENST00000330487.5	-	1	392	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P128P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACCTGAGCGGGTAACTGA	0.562000													12	343					0	0	0.080935	0	0
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I									p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383000													5	148					0	0	0.014758	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702037	187702037	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:187702037A>G	ENST00000295131.2	-	5	778	c.739T>C	c.(739-741)Tat>Cat	p.Y247H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	247					apoptosis		zinc ion binding	p.Y247H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTTACTTATAACACTTCCCC	0.388000													8	110					0	0	0.047766	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903681	38903681	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:38903681G>A	ENST00000454404.2	-	12	1536	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	RASGRP4_ENST00000587738.1_Silent_p.F475F|RASGRP4_ENST00000433821.2_Silent_p.F383F|RASGRP4_ENST00000586305.1_Silent_p.F461F|RASGRP4_ENST00000587753.1_Silent_p.F406F|RASGRP4_ENST00000426920.2_Silent_p.F286F|RASGRP4_ENST00000293062.9_Silent_p.F378F	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	475					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	p.F475F(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATAATTCTTGAACACAGACT	0.542000													8	106					0	0	0.058154	0	0
DNAH1	25981	broad.mit.edu	37	3	52429597	52429597	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:52429597T>C	ENST00000420323.2	+	70	11423	c.11162T>C	c.(11161-11163)aTa>aCa	p.I3721T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3786	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I3785T(1)|p.I3721T(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCAGCTCCATAGAGAGGGGC	0.637000													12	49					0	0	0.049695	0	0
NUPL1	9818	broad.mit.edu	37	13	25905666	25905666	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:25905666A>G	ENST00000463407.1	+	13	1548	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.T457A|NUPL1_ENST00000381736.3_Missense_Mutation_p.T469A			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	469	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.T469A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CATGGCTGCAACACTTACACA	0.488000													10	16					0	0	0.049695	0	0
TMEM169	92691	broad.mit.edu	37	2	216964796	216964796	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:216964796C>T	ENST00000454545.1	+	4	751	c.425C>T	c.(424-426)aCg>aTg	p.T142M	TMEM169_ENST00000295658.4_Missense_Mutation_p.T142M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T142M|TMEM169_ENST00000406027.2_Missense_Mutation_p.T142M	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	142						integral to membrane		p.T142M(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGAAACGACGCCTGAA	0.527000													18	102					0	0	0.049695	0	0
MS4A4A	51338	broad.mit.edu	37	11	60070165	60070165	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:60070165G>T	ENST00000355131.3	+	6	687	c.464G>T	c.(463-465)tGt>tTt	p.C155F	MS4A4A_ENST00000337908.4_Missense_Mutation_p.C174F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.C155F|MS4A4A_ENST00000532114.1_Intron	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	174						integral to membrane	receptor activity	p.C174F(1)|p.C155F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TCAAATAATTGTCATGGGACT	0.408000													5	157					5.9392e-07	6.78766e-07	0.021553	1	0
ZNF521	25925	broad.mit.edu	37	18	22806286	22806286	+	Silent	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr18:22806286A>G	ENST00000361524.3	-	4	1744	c.1596T>C	c.(1594-1596)atT>atC	p.I532I	ZNF521_ENST00000584787.1_Silent_p.I312I|ZNF521_ENST00000538137.2_Silent_p.I532I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	532					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.I532I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAACCTGTCTAATATGCTCTT	0.448000			T	PAX5	ALL								3	86					0	0	0.009096	0	0
FAM178A	55719	broad.mit.edu	37	10	102677018	102677018	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:102677018G>A	ENST00000238961.3	+	3	1024	c.876G>A	c.(874-876)caG>caA	p.Q292Q	FAM178A_ENST00000370271.3_Silent_p.Q292Q|FAM178A_ENST00000370269.3_Silent_p.Q292Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	292								p.Q292Q(1)									AAAGGAAACAGAATGACATCA	0.318000													14	100					0	0	0.105934	0	0
CIT	11113	broad.mit.edu	37	12	120128147	120128147	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:120128147G>A	ENST00000392521.2	-	47	6050	c.5995C>T	c.(5995-5997)Cac>Tac	p.H1999Y	CIT_ENST00000261833.7_Missense_Mutation_p.H1957Y|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1957					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.H1985Y(1)|p.H1999Y(1)|p.H1957Y(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGGTAGCGGTGGGGTGTGCTT	0.726000													6	14					0	0	0.038147	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642866	37642866	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:37642866G>A	ENST00000356958.4	-	5	2193	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	ZNF585A_ENST00000292841.5_Silent_p.G590G|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.G590G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTTGACCTGCCACTAAAGG	0.488000													10	41					0	0	0.020292	0	0
CFH	3075	broad.mit.edu	37	1	196684873	196684873	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:196684873G>T	ENST00000367429.4	+	11	1910	c.1670G>T	c.(1669-1671)gGt>gTt	p.G557V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	557	Sushi 9.				complement activation, alternative pathway	extracellular space		p.G557V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTACAATGGTTGGTCTGAT	0.328000													6	192					0.00116845	0.00128152	0.021553	1	0
DPY19L3	147991	broad.mit.edu	37	19	32930116	32930116	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:32930116G>C	ENST00000342179.5	+	7	910	c.695G>C	c.(694-696)aGa>aCa	p.R232T	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R232T|DPY19L3_ENST00000586987.1_Missense_Mutation_p.R232T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	232						integral to membrane		p.R232T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TATTTCCTGAGACCAAACTTA	0.358000													9	142					0	0	0.080935	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:122642572G>A	ENST00000195173.4	-	10	1467	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000451055.2_Silent_p.C442C|SEMA5B_ENST00000357599.3_Silent_p.C388C			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	388	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C388C(1)|p.C442C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592000													39	113					0	0	0.111260	0	0
IKBKAP	8518	broad.mit.edu	37	9	111668633	111668633	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:111668633C>T	ENST00000374647.5	-	14	1900	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L	IKBKAP_ENST00000537196.1_Silent_p.L182L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	531					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.L531L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGCAGTCAAATGGTGAA	0.473000													21	84					0	0	0.062417	0	0
KL	9365	broad.mit.edu	37	13	33629297	33629297	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:33629297C>T	ENST00000380099.3	+	3	1452	c.1444C>T	c.(1444-1446)Cta>Tta	p.L482L	KL_ENST00000426690.2_Silent_p.L175L|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	482	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.L482L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGTTGACTTTCTAAGCCAGGA	0.483000													11	203					0	0	0.020292	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458905	45458905	+	RNA	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:45458905T>A	ENST00000548424.1	+	0	448																											ATCCACCTGATTATGTGCATG	0.458000													9	26					0	0	0.058154	0	0
XPR1	9213	broad.mit.edu	37	1	180775220	180775220	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:180775220G>A	ENST00000367590.4	+	5	668	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	XPR1_ENST00000367589.3_Missense_Mutation_p.R157Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	157	SPX.					integral to plasma membrane	G-protein coupled receptor activity	p.R157Q(2)|p.R157L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACAGGGTTTCGAAAAATCCTG	0.378000													4	74					0	0	0.009096	0	0
SPEN	23013	broad.mit.edu	37	1	16260282	16260282	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:16260282C>T	ENST00000375759.3	+	11	7751	c.7547C>T	c.(7546-7548)cCa>cTa	p.P2516L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2516	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.P2516L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTCCATCTCCAGCTCTTCCC	0.582000													96	338					0	0	0.048971	0	0
SIRT3	23410	broad.mit.edu	37	11	224185	224185	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:224185T>C	ENST00000382743.4	-	5	964	c.862A>G	c.(862-864)Aag>Gag	p.K288E	SIRT3_ENST00000524564.1_Missense_Mutation_p.K224E|SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000529382.1_Missense_Mutation_p.K146E|SIRT3_ENST00000525319.1_Missense_Mutation_p.K207E	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	288	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	p.K288E(1)		endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGTCGGGCTTCACAACGCCG	0.587000													3	82					0	0	0.004672	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1												p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672000													14	132					0	0	0.049695	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99211511	99211511	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:99211511C>T	ENST00000393760.1	+	3	428	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R27C|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R27C|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R27C|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R27C|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R27C|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R27C	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	27					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.R27C(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TTACAGGCGCCGCTGTCCACC	0.667000													10	77					0	0	0.024245	0	0
HOXA9	3205	broad.mit.edu	37	7	27203329	27203329	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:27203329C>T	ENST00000343483.6	-	2	784	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E78K|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	238							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E238K(1)|p.E238*(1)		central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGAGCCACCTCGTACCTGCGG	0.507000			T	"""NUP98, MSI2"""	AML*								23	177					0	0	0.034045	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493718	102493718	+	Splice_Site	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:102493718A>G	ENST00000360184.4	+	46	9050		c.e46-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCTTCTGTAGGTCCATAGG	0.453000													3	125					0	0	0.004672	0	0
MT-CO2	4513	broad.mit.edu	37	MT	8105	8105	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrM:8105G>A	ENST00000361739.1	+	1	520	c.520G>A	c.(520-522)Gca>Aca	p.A174T						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TAAAAACAGATGCAATTCCCG	0.463000													3	1					0	0	0.004672	0	0
BRWD1	54014	broad.mit.edu	37	21	40569284	40569284	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr21:40569284G>C	ENST00000342449.3	-	41	5789	c.5711C>G	c.(5710-5712)tCc>tGc	p.S1904C	BRWD1_ENST00000380800.3_Missense_Mutation_p.S1904C|BRWD1_ENST00000333229.2_Missense_Mutation_p.S1904C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S1904C(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAGTCACTGGAACAGACCCT	0.398000													4	254					0	0	0.009096	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435729	104435729	+	RNA	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:104435729A>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCAGAGAGTGATGGTCTGACT	0.408000													6	26					0	0	0.029380	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													4	28					0	0	0.047766	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518542	106518542	+	RNA	SNP	A	A	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:106518542A>C	ENST00000390598.2	-	0	287																											ATCTTGCTTTATGTTGGCCAC	0.517000													15	232					0	0	0.020292	0	0
DPY19L3	147991	broad.mit.edu	37	19	32930060	32930060	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:32930060G>A	ENST00000342179.5	+	7	854	c.639G>A	c.(637-639)gaG>gaA	p.E213E	DPY19L3_ENST00000392250.2_Silent_p.E213E|DPY19L3_ENST00000586987.1_Silent_p.E213E	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	213						integral to membrane		p.E213E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CACTGAGGGAGAACTGGGCGC	0.373000													12	170					0	0	0.105934	0	0
DCTN1	1639	broad.mit.edu	37	2	74594501	74594501	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:74594501A>G	ENST00000361874.3	-	19	2548	c.2231T>C	c.(2230-2232)aTg>aCg	p.M744T	DCTN1_ENST00000409438.1_Missense_Mutation_p.M610T|DCTN1_ENST00000409240.1_Missense_Mutation_p.M707T|DCTN1_ENST00000394003.3_Missense_Mutation_p.M737T|DCTN1_ENST00000409868.1_Missense_Mutation_p.M727T|DCTN1_ENST00000409567.3_Missense_Mutation_p.M724T|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.M610T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	744					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.M744T(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						AGCCAGCTGCATAGTACAGTC	0.537000													9	62					0	0	0.058154	0	0
VIL1	7429	broad.mit.edu	37	2	219301981	219301981	+	Silent	SNP	C	C	T	rs141506332	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:219301981C>T	ENST00000248444.5	+	17	2194	c.2106C>T	c.(2104-2106)caC>caT	p.H702H	VIL1_ENST00000392114.2_Silent_p.H391H	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	702	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.H702H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGGGACACGAGCCCCCCA	0.602000													4	88					0	0	0.009096	0	0
PTPRJ	5795	broad.mit.edu	37	11	48181542	48181542	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:48181542G>T	ENST00000418331.2	+	22	3851	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1167	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.A1167S(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CATAACTGTGGCAATGACATC	0.398000													69	156					1.48005e-37	1.75032e-37	0.048971	1	0
ZNF384	171017	broad.mit.edu	37	12	6788136	6788136	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:6788136G>A	ENST00000396795.1	-	3	777	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	ZNF384_ENST00000361959.3_Missense_Mutation_p.P94S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P94S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P94S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P94S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P94S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P94S(2)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCTGTAGACGGCACAGGGACC	0.562000			T	"""EWSR1, TAF15 """	ALL								5	181					0	0	0.014758	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488000													5	263					0	0	0.021553	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													5	112					0	0	0.014758	0	0
B4GALNT3	283358	broad.mit.edu	37	12	654047	654047	+	Splice_Site	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:654047G>C	ENST00000266383.5	+	5	460		c.e5-1		B4GALNT3_ENST00000544638.1_Splice_Site	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCTTGGCATAGATTCGCACAA	0.547000													4	89					0	0	0.009096	0	0
OR1J2	26740	broad.mit.edu	37	9	125273234	125273234	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:125273234G>A	ENST00000335302.5	+	1	154	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATCCAGCTGGACTCTCACCT	0.547000													34	178					0	0	0.069456	0	0
KDM5B	10765	broad.mit.edu	37	1	202704717	202704717	+	Splice_Site	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:202704717T>C	ENST00000367265.3	-	22	4429		c.e22-2		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.?(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACACAGCACCTAATGTGGGAC	0.388000													3	126					0	0	0.009096	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352529	51352529	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:51352529C>T	ENST00000337334.2	+	7	593	c.578C>T	c.(577-579)aCg>aTg	p.T193M	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.T86M|ABHD12B_ENST00000353130.1_Missense_Mutation_p.T116M	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	193							hydrolase activity	p.T116M(1)|p.T193M(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGACTGACTACGGATGCCATT	0.522000													6	264					0	0	0.021553	0	0
NAGA	4668	broad.mit.edu	37	22	42456372	42456372	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr22:42456372C>G	ENST00000396398.3	-	9	1679	c.1147G>C	c.(1147-1149)Gaa>Caa	p.E383Q	NAGA_ENST00000402937.1_Missense_Mutation_p.E383Q|NAGA_ENST00000403363.1_Missense_Mutation_p.E383Q	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	383					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	p.E383Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAGTTGGTTTCATCTCGGAGG	0.557000													4	156					0	0	0.009096	0	0
MAGED1	9500	broad.mit.edu	37	X	51645010	51645010	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:51645010T>A	ENST00000375695.2	+	13	2642	c.2489T>A	c.(2488-2490)tTc>tAc	p.F830Y	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.F774Y|MAGED1_ENST00000375722.1_Missense_Mutation_p.F774Y|MAGED1_ENST00000326587.7_Missense_Mutation_p.F774Y	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	774					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.F830Y(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCCATTGGTTTCTTCTGGGTT	0.512000										Multiple Myeloma(10;0.10)			11	30					0	0	0.069234	0	0
ATRX	546	broad.mit.edu	37	X	76939965	76939965	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:76939965G>A	ENST00000373344.5	-	9	997	c.783C>T	c.(781-783)aaC>aaT	p.N261N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.N223N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	261	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.N261N(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATACCATTGGTTGTTTTCAT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						28	268					0	0	0.030593	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120493	46120493	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:46120493G>A	ENST00000355105.3	-	6	1559	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.H67Y	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.H67Y(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GAGGGCTGGTGCCAAGAATCT	0.463000													16	48					0	0	0.033300	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582594	64582594	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:64582594T>C	ENST00000498707.1	-	27	4433	c.4091A>G	c.(4090-4092)aAc>aGc	p.N1364S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.N1336S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1364	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1364S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACACAGTCGTTTGCGGTGTA	0.502000													9	79					0	0	0.069234	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													7	114	---	---	---	---					
MAN1A2	10905	broad.mit.edu	37	1	117944999	117945019	+	In_Frame_Del	DEL	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:117944999_117945019delTAGGAATACGTGGTGGAGACC	ENST00000356554.3	+	2	1229_1249	c.494_514delTAGGAATACGTGGTGGAGACC	c.(493-516)gca>g	p.VGIRGGDP165del	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	165					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CCCAACCTTGTAGGAATACGTGGTGGAGACCCAGAAGATAA	0.371													13	63	---	---	---	---					
RNASEH1-AS1	100506054	broad.mit.edu	37	2	3608128	3608131	+	RNA	DEL	TTCT	TTCT	-	rs77904732		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:3608128_3608131delTTCT	ENST00000438436.1	+	0	789				AC108488.3_ENST00000426725.1_RNA	NR_038429.1																						ccttccttccttcttctttccttc	0.397													2	4	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													4	9	---	---	---	---					
ENTPD3-AS1	285266	broad.mit.edu	37	3	40418595	40418595	+	RNA	DEL	G	G	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:40418595delG	ENST00000439293.1	-	0	143																											agggaggggaggggagggagg	0.557													3	5	---	---	---	---					
POLR2J4	84820	broad.mit.edu	37	7	44054564	44054565	+	RNA	DEL	CA	CA	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:44054564_44054565delCA	ENST00000427076.1	-	0	179					NR_003655.2																						CTACCCCCGCCACACACACACA	0.515													2	4	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242466	55242480	+	In_Frame_Del	DEL	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	rs121913438		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:55242466_55242480delGAATTAAGAGAAGCA	ENST00000275493.2	+	19	2413_2427	c.2236_2250delGAATTAAGAGAAGCA	c.(2236-2250)del	p.ELREA746del	EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA	0.474	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			22	148	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													7	547	---	---	---	---					
TOP3A	7156	broad.mit.edu	37	17	18194306	18194307	+	In_Frame_Ins	INS	-	-	CGA			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:18194306_18194307insCGA	ENST00000321105.5	-	12	1530_1531	c.1316_1317insTCG	c.(1315-1317)cca>cTCGca	p.439_439P>LA	TOP3A_ENST00000542570.1_In_Frame_Ins_p.344_344P>LA|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	439					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCAGGAAATGGCGAACAATAAA	0.525													17	92	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43433896	43433896	+	RNA	DEL	T	T	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:43433896delT	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGAGAGAAGATTGCCCTGTGT	0.517													40	155	---	---	---	---