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
NALCN	259232	broad.mit.edu	37	13	101735485	101735485	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:101735485G>T	ENST00000251127.6	-	32	3729	c.3648C>A	c.(3646-3648)atC>atA	p.I1216I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1216						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGAGTAATGCGATTGTCCTCT	0.423000													13	48					3.27435e-08	4.49054e-08	1	1	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323418	15323418	+	RNA	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:15323418G>T	ENST00000344693.5	-	0	892					NR_027270.1																						TTCTTTCTTTGTACTGCTCCT	0.323000													8	58					0.000442599	0.000507035	1	1	0
SPINK5	11005	broad.mit.edu	37	5	147505144	147505144	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:147505144C>T	ENST00000359874.3	+	29	2870	c.2797C>T	c.(2797-2799)Cgt>Tgt	p.R933C	SPINK5_ENST00000256084.7_Intron	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	914	Kazal-like 14.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R933C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCTGGGCGTTCCTTGGC	0.443000													14	50					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124708	103124708	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:103124708C>G	ENST00000295269.4	+	5	1826	c.1369C>G	c.(1369-1371)Cta>Gta	p.L457V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	457					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CACTGCTACTCTAGTAGTTAT	0.313000													10	32					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426214	125426214	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:125426214G>T	ENST00000284674.1	+	1	344	c.291G>T	c.(289-291)atG>atT	p.M97I		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	97					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGCTCAGCATGGCCGCGCTCA	0.716000													3	5					0.115264	0.117466	1	1	0
IGKV1-8	28942	broad.mit.edu	37	2	89292385	89292385	+	RNA	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:89292385C>A	ENST00000495489.1	-	0	65																											AGGAGCTGAGCGGGGACCCTC	0.562000													17	124					1.02788e-11	1.53702e-11	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531523	50531523	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:50531523G>T	ENST00000374144.3	+	3	1221	c.933G>T	c.(931-933)ttG>ttT	p.L311F	C10orf71_ENST00000323868.4_Missense_Mutation_p.L311F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	311										endometrium(1)	1						ACACGACCTTGCTAAGAGAAC	0.572000													6	56					8.12818e-05	9.70529e-05	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248262679	248262679	+	Translation_Start_Site	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:248262679T>C	ENST00000366478.2	+	3	339	c.2T>C	c.(1-3)aTg>aCg	p.M1T	OR2L13_ENST00000358120.2_Start_Codon_SNP_p.M1T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AAAGTTTTCATGGAGAAATGG	0.333000													9	92					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934862	30934862	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:30934862G>T	ENST00000355537.3	+	2	540	c.393G>T	c.(391-393)ccG>ccT	p.P131P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGTACCCGTGCCCACTCT	0.627000													7	39					5.18039e-06	6.59572e-06	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627229	43627229	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:43627229C>A	ENST00000332857.6	-	4	1486	c.1458G>T	c.(1456-1458)ctG>ctT	p.L486L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TAGGTGTGGGCAGGAATTGGG	0.537000													88	416					9.35349e-44	1.5271e-43	1	1	0
ENAM	10117	broad.mit.edu	37	4	71509712	71509712	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:71509712C>A	ENST00000396073.3	+	9	2850	c.2569C>A	c.(2569-2571)Cca>Aca	p.P857T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	857					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCAAGTTACCCATCAGGTCA	0.448000													8	85					0.000157383	0.000185612	1	1	0
P4HA2	8974	broad.mit.edu	37	5	131545982	131545982	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:131545982G>C	ENST00000401867.1	-	7	1272	c.704C>G	c.(703-705)tCc>tGc	p.S235C	P4HA2_ENST00000379100.2_Missense_Mutation_p.S235C|P4HA2_ENST00000379086.1_Missense_Mutation_p.S235C|P4HA2_ENST00000379104.2_Missense_Mutation_p.S235C|P4HA2_ENST00000360568.3_Missense_Mutation_p.S235C|P4HA2_ENST00000166534.4_Missense_Mutation_p.S235C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	235						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTTACCAAGGGAGAGCAGGCG	0.587000													22	107					0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125499162	125499162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:125499162A>T	ENST00000534070.1	+	4	580	c.325A>T	c.(325-327)Aga>Tga	p.R109*	CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R109*|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R125*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R109*|CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R109*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R109*|CHEK1_ENST00000278916.3_Nonsense_Mutation_p.R109*	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	109	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AGATGCTCAGAGATTCTTCCA	0.358000								Other conserved DNA damage response genes					18	108					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238051808	238051808	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:238051808G>T	ENST00000366570.4	-	4	561	c.403C>A	c.(403-405)Cga>Aga	p.R135R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	135					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAGCATCTCGGGCTAGGTTT	0.453000													13	57					1.5842e-08	2.21696e-08	1	1	0
ZNF337	26152	broad.mit.edu	37	20	25666740	25666740	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:25666740C>T	ENST00000376436.1	-	2	585	c.46G>A	c.(46-48)Gat>Aat	p.D16N	ZNF337_ENST00000538750.1_Missense_Mutation_p.D16N|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.D16N					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAGTGACATCCCCAAATGCC	0.547000													16	131					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060314	56060314	+	Silent	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:56060314T>C	ENST00000584396.1	-	2	535	c.447A>G	c.(445-447)ccA>ccG	p.P149P	VEZF1_ENST00000581208.1_Silent_p.P158P			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	158					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ACTGGGTCACTGGCATAGCTG	0.522000													9	57					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193059164	193059164	+	Silent	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:193059164T>C	ENST00000409056.3	-	1	86	c.87A>G	c.(85-87)ctA>ctG	p.L29L	TMEFF2_ENST00000392314.1_Silent_p.L29L|TMEFF2_ENST00000272771.5_Silent_p.L29L			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	29						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTACGATGAGTAGCATGACGG	0.602000													20	76					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986728	11986728	+	RNA	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:11986728C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GGAAAAGCTGCATCTGGCTGA	0.517000													15	156					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72311461	72311461	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:72311461A>G	ENST00000430046.2	+	7	725	c.609A>G	c.(607-609)caA>caG	p.Q203Q	FCHO2_ENST00000287761.6_Silent_p.Q203Q|FCHO2_ENST00000341845.6_Silent_p.Q203Q|FCHO2_ENST00000512348.1_Intron	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	203										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGAAATTTCAAGATATTGAAG	0.294000													3	29					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9656164	9656164	+	Silent	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:9656164T>A	ENST00000217964.7	+	7	1105	c.465T>A	c.(463-465)gcT>gcA	p.A155A	TBL1X_ENST00000424279.1_Silent_p.A104A|TBL1X_ENST00000536365.1_Silent_p.A104A|TBL1X_ENST00000407597.2_Silent_p.A155A|TBL1X_ENST00000380961.1_Silent_p.A104A	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	155					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGAAGCTCGCTCAGCAGCAAG	0.667000													4	21					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020602	56020602	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:56020602A>G	ENST00000303059.3	+	1	927	c.927A>G	c.(925-927)acA>acG	p.T309T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TATTTTACACAATTGTGATTC	0.348000													19	76					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108776288	108776288	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:108776288G>T	ENST00000232603.5	-	13	1159	c.1077C>A	c.(1075-1077)aaC>aaA	p.N359K	MORC1_ENST00000483760.1_Missense_Mutation_p.N359K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	359					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.N359N(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTTTCTACGTTCACTCCAT	0.343000													11	74					0.000978159	0.00110474	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91624937	91624937	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:91624937G>A	ENST00000359028.2	+	8	1014	c.789G>A	c.(787-789)ctG>ctA	p.L263L	AKAP9_ENST00000394564.1_Silent_p.L251L|AKAP9_ENST00000358100.2_Silent_p.L263L|AKAP9_ENST00000356239.3_Silent_p.L251L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	263	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAACTCTGAGAAACAGCA	0.423000			T	BRAF	papillary thyroid								7	42					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	174988355	174988355	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:174988355C>A	ENST00000284719.3	-	6	844	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	OLA1_ENST00000344357.5_Missense_Mutation_p.V42F|OLA1_ENST00000428402.2_Missense_Mutation_p.V200F|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000409546.1_Missense_Mutation_p.V220F	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	200					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TAGAAGCGAACAGGTTTCTTT	0.313000													4	92					0.014758	0.015333	1	1	0
TTC8	123016	broad.mit.edu	37	14	89307380	89307380	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:89307380G>A	ENST00000338104.6	+	4	351		c.e4-1		TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000345383.5_Splice_Site|TTC8_ENST00000346301.4_Splice_Site|TTC8_ENST00000536576.1_Splice_Site			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8						cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AATCTTCACAGGCCAATCACA	0.438000													9	99					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86371398	86371398	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:86371398G>A	ENST00000410111.3	-	15	2657	c.2270C>T	c.(2269-2271)cCa>cTa	p.P757L	IMMT_ENST00000254636.5_Missense_Mutation_p.P658L|IMMT_ENST00000409051.2_Missense_Mutation_p.P710L|IMMT_ENST00000449247.2_Missense_Mutation_p.P746L|IMMT_ENST00000442664.2_Missense_Mutation_p.P756L	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	757						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCTCACTCTGGCTGCACCTG	0.473000													8	42					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818923	214818923	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:214818923G>T	ENST00000366955.3	+	13	6178	c.6010G>T	c.(6010-6012)Gtg>Ttg	p.V2004L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2100					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGCATTCAGGTGGCAGAGGC	0.438000													31	86					1.7881e-09	2.53183e-09	1	1	0
NAP1L3	4675	broad.mit.edu	37	X	92928109	92928109	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:92928109G>T	ENST00000373079.3	-	1	458	c.195C>A	c.(193-195)agC>agA	p.S65R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	65	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						tagtgctgccgctgctgctgc	0.602000													4	29					0.00909568	0.00963781	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32638650	32638650	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:32638650C>A	ENST00000286827.3	-	5	1110	c.639G>T	c.(637-639)ggG>ggT	p.G213G	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.G213G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	213					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCGTTTCCATCCCCCGAGCCT	0.537000													10	81					1.08611e-07	1.47269e-07	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906740	13906740	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:13906740G>T	ENST00000279593.3	-	3	730	c.521C>A	c.(520-522)aCc>aAc	p.T174N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	174					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGAAATAGGTGGTGACGAT	0.468000													13	79					3.27435e-08	4.49054e-08	1	1	0
TCN1	6947	broad.mit.edu	37	11	59623483	59623483	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:59623483G>T	ENST00000257264.3	-	6	900	c.796C>A	c.(796-798)Caa>Aaa	p.Q266K	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	266					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGTTTGTTGGCAATTCCAG	0.473000													15	77					1.3612e-06	1.77548e-06	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70993553	70993553	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:70993553A>T	ENST00000393567.2	-	39	6289	c.6139T>A	c.(6139-6141)Tca>Aca	p.S2047T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2047										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCTACCTGACAAGGGTGTC	0.537000													4	34					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56031727	56031727	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:56031727T>C	ENST00000244728.5	-	7	1652	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A	COL21A1_ENST00000370819.1_Missense_Mutation_p.T419A|COL21A1_ENST00000535941.1_Missense_Mutation_p.T419A	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	419					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACATGCTGTCTCCCGGTTG	0.378000													3	17					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196851	24196851	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:24196851A>T	ENST00000303531.7	+	15	1837	c.1685A>T	c.(1684-1686)aAg>aTg	p.K562M	PRKCB_ENST00000321728.7_Missense_Mutation_p.K562M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	562	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCCTATCCCAAGTCTATGTCC	0.512000													32	61					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41049486	41049486	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:41049486G>A	ENST00000399564.4	-	14	1847	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	MROH2B_ENST00000506092.2_Missense_Mutation_p.A21V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGGCTCCAGAGCTTCTGTGTA	0.468000													14	37					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431310	56431310	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:56431310C>A	ENST00000302969.2	+	1	173	c.149C>A	c.(148-150)aCa>aAa	p.T50K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCCTGATTACAACAGACACT	0.473000													40	251					1.47197e-15	2.27918e-15	1	1	0
FAM21B	55747	broad.mit.edu	37	10	47929868	47929868	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:47929868C>G	ENST00000358474.5	+	19	1849	c.1849C>G	c.(1849-1851)Cct>Gct	p.P617A		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	617					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTTTGGCTCTCCTCCCACATC	0.453000													27	62					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78734957	78734957	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:78734957G>C	ENST00000436010.2	-	8	2161	c.1164C>G	c.(1162-1164)atC>atG	p.I388M	ROBO1_ENST00000495273.1_Missense_Mutation_p.I391M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I391M|ROBO1_ENST00000464233.1_Missense_Mutation_p.I427M			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	427	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGTCTGGCAGATGTAATAAC	0.393000													7	19					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128110	117128110	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:117128110G>T	ENST00000310357.3	-	3	779	c.758C>A	c.(757-759)aCc>aAc	p.T253N	GPRC6A_ENST00000530250.1_Missense_Mutation_p.T253N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.T253N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	253					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTTCAATGGTATTATCTGA	0.378000													12	71					0.0135373	0.0142498	1	1	0
DTWD1	56986	broad.mit.edu	37	15	49924460	49924460	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:49924460G>T	ENST00000251250.6	+	4	576	c.369G>T	c.(367-369)acG>acT	p.T123T	DTWD1_ENST00000403028.3_Silent_p.T123T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Silent_p.T36T|DTWD1_ENST00000558653.1_Silent_p.T123T	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	123										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ACATTTACACGTATCCGTGTA	0.323000													13	37					0.00010058	0.000119797	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11671768	11671768	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:11671768A>T	ENST00000262442.3	+	37	7238		c.e37-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTTTTTGCAGCTTGTGGAC	0.512000													9	67					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127726893	127726893	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:127726893G>T	ENST00000368679.4	-	20	2584	c.2275C>A	c.(2275-2277)Cgt>Agt	p.R759S		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	759					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGAAGCCACGGGGTGGCCGG	0.557000													3	20					0.00024832	0.000288604	1	1	0
ZNF451	26036	broad.mit.edu	37	6	57012847	57012847	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:57012847G>T	ENST00000370706.4	+	10	2208	c.1964G>T	c.(1963-1965)tGc>tTc	p.C655F	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.C655F|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.C655F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TACCGACATTGCCAAGATGAG	0.388000													14	114					9.31168e-06	1.16396e-05	1	1	0
UCK2	7371	broad.mit.edu	37	1	165877039	165877039	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:165877039G>C	ENST00000367879.4	+	7	1068	c.765G>C	c.(763-765)gaG>gaC	p.E255D	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	255					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AGGCATCGGAGTCCAGCAGCA	0.597000													29	78					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240372002	240372002	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:240372002A>T	ENST00000319653.9	+	5	4120	c.3890A>T	c.(3889-3891)tAc>tTc	p.Y1297F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1297	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCCTCTTTACTGGACCAGG	0.458000													23	74					0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228680	228228680	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:228228680A>G	ENST00000304568.3	-	4	487	c.450T>C	c.(448-450)tcT>tcC	p.S150S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	150						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GAGGTGCACAAGAGTCATTGA	0.408000													16	80					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255983	240255983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:240255983C>T	ENST00000319653.9	+	1	804	c.574C>T	c.(574-576)Caa>Taa	p.Q192*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	192					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCTACGGAGCAAGAGGATTT	0.602000													12	39					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139455	142139455	+	RNA	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:142139455G>A	ENST00000390374.3	-	0	214																											CTGCCCCAGGGCCTGTCGGTA	0.517000													12	73					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33590570	33590570	+	Splice_Site	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:33590570G>C	ENST00000404816.2	+	31	5064	c.4711_splice	c.e31+1	p.D1571_splice	LTBP1_ENST00000390003.4_Splice_Site_p.D1246_splice|LTBP1_ENST00000402934.1_Splice_Site_p.D1190_splice|LTBP1_ENST00000354476.3_Splice_Site_p.D1572_splice|LTBP1_ENST00000272273.5_Splice_Site_p.D469_splice|LTBP1_ENST00000407925.1_Splice_Site_p.D1245_splice|LTBP1_ENST00000404525.1_Splice_Site_p.D1192_splice|LTBP1_ENST00000418533.2_Splice_Site_p.D1203_splice			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1571	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.D1572N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAGGATTCAGGTGAGCCCAT	0.542000													5	43					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135590	55135590	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:55135590C>T	ENST00000314706.3	+	1	231	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAGTGACCATCATGGCCAGCC	0.438000													21	111					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517069	20517069	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:20517069C>T	ENST00000375099.3	+	2	99	c.15C>T	c.(13-15)gcC>gcT	p.A5A		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	5										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCACAGAAGCCCCTGTGAATA	0.493000													13	133					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179300160	179300160	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:179300160C>T	ENST00000356834.3	-	13	2312	c.2275G>A	c.(2275-2277)Gca>Aca	p.A759T	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.A759T	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	759						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCACCTCTGCAGGGGGGTCA	0.572000													10	46					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8055777	8055777	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:8055777C>T	ENST00000344293.5	+	6	2858	c.2652C>T	c.(2650-2652)gaC>gaT	p.D884D		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	884					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTGGGTGTGACGACTGCGATG	0.572000													8	120					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25824924	25824924	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:25824924C>T	ENST00000374343.4	+	11	2141	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	TMEM57_ENST00000399763.3_Silent_p.P296P|TMEM57_ENST00000399766.3_Silent_p.P427P	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	654						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GACTTGACCCCAATGCCTCTG	0.547000													17	105					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149264102	149264102	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:149264102T>C	ENST00000255266.5	-	16	2086	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	656					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATGGCATGCTCATGCTGTCG	0.418000													8	69					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493712	149493712	+	RNA	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:149493712G>C	ENST00000378016.2	+	0	6708							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCCCAGGGGTTGGACTCC	0.662000													6	28					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30890211	30890211	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:30890211G>T	ENST00000475541.1	-	1	1020	c.88C>A	c.(88-90)Ctc>Atc	p.L30I	PURG_ENST00000339382.2_Missense_Mutation_p.L30I	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	30						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TGGGGATAGAGTCTACTCTTG	0.662000													4	10					0.00024832	0.000288604	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369395	56369395	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:56369395C>T	ENST00000301295.6	+	3	1058	c.636C>T	c.(634-636)ccC>ccT	p.P212P	NLRP4_ENST00000346986.5_Silent_p.P212P|NLRP4_ENST00000587891.1_Silent_p.P137P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	212	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGCCTGACCCCGCTGCTCCTA	0.542000													22	89					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346775	48346775	+	Missense_Mutation	SNP	G	G	T	rs139115763		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:48346775G>T	ENST00000319856.4	+	1	304	c.283G>T	c.(283-285)Gac>Tac	p.D95Y		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATCCTTTATTGACACCTTTTA	0.478000													7	144					4.68919e-08	6.37623e-08	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189872836	189872836	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:189872836C>T	ENST00000304636.3	+	47	3663	c.3493C>T	c.(3493-3495)Cct>Tct	p.P1165S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P862S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1165	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCACCAGGGCCTCGAGGTAA	0.463000													3	23					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66352911	66352911	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:66352911G>A	ENST00000448504.2	+	6	1466	c.670G>A	c.(670-672)Gct>Act	p.A224T	ARSG_ENST00000452479.2_Missense_Mutation_p.A60T|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	224					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCAGAAGTATGCTGAGAAAGC	0.567000													10	53					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100327973	100327973	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:100327973G>A	ENST00000294724.4	+	4	932	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	AGL_ENST00000361302.3_Missense_Mutation_p.E136K|AGL_ENST00000370165.3_Missense_Mutation_p.E152K|AGL_ENST00000361522.4_Missense_Mutation_p.E135K|AGL_ENST00000361915.3_Missense_Mutation_p.E152K|AGL_ENST00000370163.3_Missense_Mutation_p.E152K|AGL_ENST00000370161.2_Missense_Mutation_p.E136K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	152					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.E152*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGTTGCAAAAGAATCAGGTAA	0.328000													19	123					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78667116	78667116	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:78667116G>A	ENST00000436010.2	-	25	4831	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P	ROBO1_ENST00000495273.1_Silent_p.P1272P|ROBO1_ENST00000467549.1_Silent_p.P1217P|ROBO1_ENST00000464233.1_Silent_p.P1317P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1317					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGAGACCAGGGGTCCTGAAA	0.527000													5	54					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001202	58001202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:58001202G>T	ENST00000548198.1	+	3	2060	c.556G>T	c.(556-558)Gag>Tag	p.E186*	DTX3_ENST00000337737.3_Nonsense_Mutation_p.E186*|DTX3_ENST00000551632.1_Nonsense_Mutation_p.E189*|DTX3_ENST00000548804.1_Nonsense_Mutation_p.E186*			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	186					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					TTCATTCTGCGAGGGCTGCAT	0.617000													5	23					0.014758	0.015333	1	1	0
CAPZA1	829	broad.mit.edu	37	1	113197232	113197232	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:113197232A>G	ENST00000263168.3	+	5	1037	c.365A>G	c.(364-366)gAa>gGa	p.E122G	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	122					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGGAGAGAATCCTGTGAC	0.423000													28	149					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139603681	139603681	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:139603681G>T	ENST00000303045.6	-	64	5125	c.4679C>A	c.(4678-4680)cCc>cAc	p.P1560H	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1540H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1560	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATTCCAGGGGGTCCCATCTC	0.607000										HNSCC(7;0.00092)			4	27					0.184627	0.186964	1	1	0
WFDC1	58189	broad.mit.edu	37	16	84353038	84353038	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:84353038A>T	ENST00000219454.5	+	4	749	c.421_splice	c.e4-1	p.A141_splice	WFDC1_ENST00000568638.1_Splice_Site_p.A141_splice			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	141					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCCTGCAGCAGAGGCGTGCA	0.647000													8	35					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910088	2910088	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:2910088T>A	ENST00000602557.1	-	51	8114	c.7559A>T	c.(7558-7560)tAt>tTt	p.Y2520F	CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2520F|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2519F|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2519F|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2520F|CSMD1_ENST00000520002.1_Missense_Mutation_p.Y2520F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2520	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGACATTCATAGACCACTTT	0.488000													5	8					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149594	34149594	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:34149594C>T	ENST00000346193.3	-	1	853	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	268										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCTCAGAATCCAGTTTCAGC	0.587000													10	45					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314753	117314753	+	Silent	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:117314753A>T	ENST00000321322.6	-	21	3892	c.3891T>A	c.(3889-3891)gcT>gcA	p.A1297A	DSCAML1_ENST00000527706.1_Silent_p.A1027A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1237	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTCGCTGGGAGCCTGCGGGG	0.632000													4	27					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202591	39202591	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:39202591T>G	ENST00000351578.6	-	2	662	c.472A>C	c.(472-474)Act>Cct	p.T158P	FYB_ENST00000505428.1_Missense_Mutation_p.T158P|FYB_ENST00000540520.1_Missense_Mutation_p.T168P|FYB_ENST00000512982.1_Missense_Mutation_p.T158P|FYB_ENST00000515010.1_Missense_Mutation_p.T158P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	158					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTTGGAGGAGTAGGCCCAGAT	0.463000													20	116					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56989601	56989601	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:56989601G>T	ENST00000370706.4	+	4	500	c.256G>T	c.(256-258)Gcc>Tcc	p.A86S	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A86S|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A86S|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGCTCGTCTAGCCCGCCATGT	0.303000													5	27					0.217242	0.219529	1	1	0
IL23R	149233	broad.mit.edu	37	1	67685376	67685376	+	Silent	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:67685376T>C	ENST00000347310.5	+	7	1089	c.918T>C	c.(916-918)ccT>ccC	p.P306P	IL23R_ENST00000371002.1_Silent_p.P306P|IL23R_ENST00000395227.1_Silent_p.P51P|IL23R_ENST00000473881.1_3'UTR|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	306	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ACTGGCAGCCTTGGAGTTCAC	0.358000													12	84					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238820	48238820	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:48238820C>A	ENST00000309562.2	+	1	477	c.459C>A	c.(457-459)caC>caA	p.H153Q		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTTTTGTCACTCCATAATTC	0.468000													10	91					2.17888e-05	2.67484e-05	1	1	0
ZMYM1	79830	broad.mit.edu	37	1	35580573	35580573	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:35580573G>A	ENST00000373330.1	+	11	3316	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.V1048I			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1048						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATAAACTTCGTCAGTCTCGG	0.348000													33	138					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908878	123908878	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:123908878C>A	ENST00000330487.5	-	1	839	c.831G>T	c.(829-831)acG>acT	p.T277T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GAGGAGTCAGCGTGGTGTAGA	0.502000													11	69					0.00829132	0.00886377	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76456116	76456116	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:76456116G>T	ENST00000396423.2	+	2	283	c.159G>T	c.(157-159)ggG>ggT	p.G53G	HNF4G_ENST00000354370.1_Silent_p.G16G	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	16					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTATCTGTGGGGACAGAGCAA	0.458000													18	72					2.48551e-13	3.78744e-13	1	1	0
OR4D9	390199	broad.mit.edu	37	11	59282831	59282831	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:59282831G>T	ENST00000329328.3	+	1	446	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	149				ASWVGGF -> GFLGGGL (in Ref. 2; AC019093).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GTGGCTTCCTGGGTGGGGGGC	0.537000													24	96					2.89027e-11	4.2687e-11	1	1	0
LIPA	3988	broad.mit.edu	37	10	90987961	90987961	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:90987961A>C	ENST00000336233.5	-	4	746	c.424T>G	c.(424-426)Ttc>Gtc	p.F142V	LIPA_ENST00000371837.1_Missense_Mutation_p.F86V|LIPA_ENST00000456827.1_Missense_Mutation_p.F142V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	142					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ATATACCTGAAAGCCCAGAAT	0.433000													15	84					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284336	223284336	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:223284336T>A	ENST00000540964.1	-	4	2499	c.2038A>T	c.(2038-2040)Aag>Tag	p.K680*	TLR5_ENST00000342210.6_Nonsense_Mutation_p.K680*			O60602	TLR5_HUMAN	toll-like receptor 5	680			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGATGGTCCTTGAACACCAGT	0.468000													25	59					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128822	83128822	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:83128822C>A	ENST00000329312.4	+	4	1143	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	369					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TACCCAGAGTCTACTGATACT	0.338000													3	27					0.004672	0.00505081	1	1	0
ADCK4	79934	broad.mit.edu	37	19	41216037	41216037	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:41216037C>A	ENST00000324464.3	-	5	595	c.294G>T	c.(292-294)ctG>ctT	p.L98L	ADCK4_ENST00000450541.1_Silent_p.L98L|ADCK4_ENST00000243583.6_Silent_p.L98L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	98						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGCCCACAGCCAGTCCTGGAG	0.567000													12	58					0.00185496	0.00208033	1	1	0
RAB30	27314	broad.mit.edu	37	11	82693306	82693306	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:82693306G>A	ENST00000533486.1	-	6	797	c.513C>T	c.(511-513)atC>atT	p.I171I	RAB30_ENST00000260056.2_Silent_p.I171I|RAB30_ENST00000534141.1_3'UTR|RAB30_ENST00000527633.1_Silent_p.I171I|RP11-659G9.3_ENST00000527550.1_RNA	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	171					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGGCTTCACTGATGAGTCGGC	0.418000													16	94					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964383	94964383	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:94964383A>G	ENST00000341228.2	-	3	1147	c.352T>C	c.(352-354)Tac>Cac	p.Y118H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Y118H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	118					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGGATGATGTAATGGAAGCCC	0.522000													30	87					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875566	247875566	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:247875566A>T	ENST00000302084.2	-	1	539	c.492T>A	c.(490-492)agT>agA	p.S164R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGACAGGCCACTGATGAGGG	0.602000													13	88					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68131671	68131671	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:68131671T>C	ENST00000262215.3	-	30	4722	c.4333A>G	c.(4333-4335)Aca>Gca	p.T1445A	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T899A|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T283A	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1445					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTACCTCTGTCTGTTGTTCT	0.303000													3	20					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699553	50699553	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:50699553C>T	ENST00000404971.1	-	17	4586	c.3247G>A	c.(3247-3249)Gta>Ata	p.V1083I	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1035I|NRXN1_ENST00000401710.1_Missense_Mutation_p.V52I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V1043I|NRXN1_ENST00000406316.2_Missense_Mutation_p.V1043I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1035I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V1043I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1043	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGGCATGTACAAGTTTTGGT	0.413000													4	31					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62568824	62568824	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:62568824T>A	ENST00000531709.2	-	8	888	c.775A>T	c.(775-777)Atc>Ttc	p.I259F	NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Missense_Mutation_p.I259F|NXF1_ENST00000439713.2_Missense_Mutation_p.I259F|NXF1_ENST00000294172.2_Missense_Mutation_p.I259F	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	259	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCAATGATCCTCAGGGTA	0.512000													7	36					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75702199	75702199	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:75702199G>A	ENST00000394947.3	-	8	1609	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	SIN3A_ENST00000394949.4_Missense_Mutation_p.T432I|SIN3A_ENST00000360439.4_Missense_Mutation_p.T432I	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	432	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGTGGTTCCTGTAGGATGTCT	0.512000													25	130					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18330573	18330573	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:18330573G>A	ENST00000396253.3	-	5	651	c.189C>T	c.(187-189)tcC>tcT	p.S63S	HPS5_ENST00000438420.2_Silent_p.S63S|HPS5_ENST00000531848.1_Silent_p.S63S|HPS5_ENST00000349215.3_Silent_p.S177S	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	177						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTACAACACAGGAGTCAACAG	0.363000									Hermansky-Pudlak syndrome				5	54					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128710111	128710111	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:128710111C>T	ENST00000392665.2	-	2	172	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	KCNJ1_ENST00000392664.2_Missense_Mutation_p.V29I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	29					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGCGAGTGACGACCCATTTC	0.408000													7	117					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39763269	39763269	+	Silent	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:39763269A>T	ENST00000553728.1	+	11	2379	c.2166A>T	c.(2164-2166)gtA>gtT	p.V722V	CTAGE5_ENST00000557038.1_Silent_p.V107V|CTAGE5_ENST00000341749.3_Silent_p.V175V|CTAGE5_ENST00000348007.3_Silent_p.V187V|CTAGE5_ENST00000280083.3_Silent_p.V187V|CTAGE5_ENST00000396165.4_Silent_p.V158V|CTAGE5_ENST00000341502.5_Silent_p.V187V|CTAGE5_ENST00000396158.2_Silent_p.V192V|RP11-407N17.3_ENST00000603904.1_Silent_p.V158V|CTAGE5_ENST00000553352.1_Silent_p.V158V|CTAGE5_ENST00000556148.1_Silent_p.V112V																							AATCACAAGTAGCTGAAGTAA	0.299000													17	103					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108636226	108636226	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:108636226A>T	ENST00000218006.2	-	13	2774	c.2483T>A	c.(2482-2484)tTg>tAg	p.L828*		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	828					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATATTGCTCCAACATCCGAAG	0.358000													23	133					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389348	62389348	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:62389348C>A	ENST00000531383.1	-	1	278	c.72G>T	c.(70-72)ctG>ctT	p.L24L	B3GAT3_ENST00000265471.5_Silent_p.L24L|B3GAT3_ENST00000534026.1_Silent_p.L24L			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	24					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGCTGTACCAGCGCGTAGA	0.731000													11	25					0.00829132	0.00886377	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64491694	64491694	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:64491694A>G	ENST00000358025.3	+	40	6135	c.5905A>G	c.(5905-5907)Atg>Gtg	p.M1969V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.M1969V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M1969V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1969			M -> T (in dbSNP:rs4902264).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGGAAAGGAATGGAAGAACC	0.373000													11	67					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816219	133816219	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:133816219T>A	ENST00000395386.2	+	7	962	c.663T>A	c.(661-663)tgT>tgA	p.C221*	PHF20L1_ENST00000395379.1_Nonsense_Mutation_p.C221*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.C91*|PHF20L1_ENST00000395374.1_Nonsense_Mutation_p.C60*|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.C195*|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.C221*|PHF20L1_ENST00000395383.1_Nonsense_Mutation_p.C225*|PHF20L1_ENST00000337920.4_Nonsense_Mutation_p.C195*|PHF20L1_ENST00000395376.1_Nonsense_Mutation_p.C225*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	221							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTTCAACTTGTATAGCCACAC	0.383000													6	51					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389509	19389509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:19389509G>T	ENST00000338883.4	-	23	3247	c.3248C>A	c.(3247-3249)tCg>tAg	p.S1083*	MAP3K15_ENST00000359173.3_Nonsense_Mutation_p.S518*|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Nonsense_Mutation_p.S915*	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1083							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ACTGATGGACGAGCTGTCAAA	0.527000													12	103					0.000978159	0.00110474	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87482253	87482253	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:87482253C>A	ENST00000304053.6	+	14	2023	c.1540C>A	c.(1540-1542)Cca>Aca	p.P514T	NTRK2_ENST00000376213.1_Missense_Mutation_p.P498T|NTRK2_ENST00000323115.4_Missense_Mutation_p.P498T|NTRK2_ENST00000376214.1_Missense_Mutation_p.P514T|NTRK2_ENST00000376208.1_Missense_Mutation_p.P498T|NTRK2_ENST00000277120.3_Missense_Mutation_p.P514T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	498					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGAAGGTGGCCCAGATGCTGT	0.493000										TSP Lung(25;0.17)			16	100					0.00316338	0.00347465	1	1	0
ANK3	288	broad.mit.edu	37	10	61840373	61840373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:61840373C>A	ENST00000280772.1	-	36	4545	c.4354G>T	c.(4354-4356)Gag>Tag	p.E1452*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.E1444*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.E577*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.E1437*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1452					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTTTTCTCAATCTGAAAA	0.383000													3	25					0.004672	0.00505081	1	1	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	A	rs121912660		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:7577099C>A	ENST00000420246.2	-	8	971	c.839G>T	c.(838-840)aGa>aTa	p.R280I	TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000269305.4_Missense_Mutation_p.R280I|TP53_ENST00000445888.2_Missense_Mutation_p.R280I|TP53_ENST00000455263.2_Missense_Mutation_p.R280I|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	31					0.00621372	0.00668741	1	1	0
FATE1	89885	broad.mit.edu	37	X	150889973	150889973	+	Splice_Site	SNP	G	G	T	rs149441058		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:150889973G>T	ENST00000370350.3	+	3	426	c.341_splice	c.e3+1	p.R114_splice		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	114						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATTATGATCGGTAAGAGCTG	0.602000													8	45					0.000274275	0.000318	1	1	0
OR9A2	135924	broad.mit.edu	37	7	142723821	142723821	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:142723821G>T	ENST00000350513.2	-	1	461	c.399C>A	c.(397-399)aaC>aaA	p.N133K		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGGTACTGCTGTTCATAATGA	0.438000													9	74					2.17888e-05	2.67484e-05	1	1	0
CD2	914	broad.mit.edu	37	1	117311298	117311298	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:117311298G>A	ENST00000369478.3	+	5	1057	c.949G>A	c.(949-951)Ggc>Agc	p.G317S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	317	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGCTCCGTCGGGCACACAAGT	0.617000													14	150					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81648674	81648674	+	Silent	SNP	C	C	T	rs80307006		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:81648674C>T	ENST00000548058.1	+	16	2944	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	ACSS3_ENST00000548324.1_Silent_p.H360H|ACSS3_ENST00000261206.3_Silent_p.H677H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	678						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTTTGGCCACGTAGAAGAAA	0.308000													14	60					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112415280	112415280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:112415280C>A	ENST00000312814.5	-	3	1782	c.1222G>T	c.(1222-1224)Gga>Tga	p.G408*	TMEM168_ENST00000454074.1_Nonsense_Mutation_p.G408*|TMEM168_ENST00000480969.1_5'UTR	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	408						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GATGTTCCTCCTAAACAGTTA	0.378000													9	60					3.86212e-05	4.65783e-05	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669490	158669490	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:158669490C>A	ENST00000359610.2	-	1	996	c.953G>T	c.(952-954)gGg>gTg	p.G318V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACTTGAGGTCCCTGGTCTTAC	0.363000													20	62					5.35267e-07	7.03912e-07	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4736530	4736530	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:4736530G>C	ENST00000545990.2	-	5	2062	c.1538C>G	c.(1537-1539)cCt>cGt	p.P513R	AKAP3_ENST00000228850.1_Missense_Mutation_p.P513R	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	513					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAAATTCTCAGGTTTCTCTGG	0.498000													6	33					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75682080	75682080	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:75682080C>A	ENST00000394947.3	-	16	3248	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	SIN3A_ENST00000394949.4_Missense_Mutation_p.Q978H|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q978H	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	978					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATCTTCATACTGTGATGAGT	0.473000													20	109					7.33628e-21	1.1699e-20	1	1	0
NEU4	129807	broad.mit.edu	37	2	242758329	242758329	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:242758329G>T	ENST00000391969.2	+	5	2121	c.1410G>T	c.(1408-1410)ccG>ccT	p.P470P	NEU4_ENST00000404257.1_Silent_p.P482P|NEU4_ENST00000407683.1_Silent_p.P470P|NEU4_ENST00000405370.1_Silent_p.P470P|NEU4_ENST00000325935.6_Silent_p.P483P	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	470						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCCCAAGCCGCCCAACCTTG	0.647000													3	10					0.150653	0.153207	1	1	0
THAP4	51078	broad.mit.edu	37	2	242573004	242573004	+	Missense_Mutation	SNP	C	C	T	rs141722414		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:242573004C>T	ENST00000407315.1	-	2	999	c.568G>A	c.(568-570)Gca>Aca	p.A190T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	190							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGCTTCTGCTTTTCCCTGA	0.612000													15	80					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823781	74823781	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:74823781G>T	ENST00000256362.4	+	2	536	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	99					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGGTGACGCAGGCCTCAGCCT	0.632000													11	21					4.68919e-08	6.37623e-08	1	1	0
ACAN	176	broad.mit.edu	37	15	89382207	89382207	+	Silent	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:89382207T>A	ENST00000439576.2	+	3	758	c.384T>A	c.(382-384)tcT>tcA	p.S128S	ACAN_ENST00000561243.1_Silent_p.S128S|ACAN_ENST00000352105.7_Silent_p.S128S|ACAN_ENST00000558207.1_Silent_p.S128S|ACAN_ENST00000559004.1_Silent_p.S128S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	128					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAATGACTCTGGGGTCTACC	0.617000													35	129					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123519834	123519834	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:123519834C>A	ENST00000422452.2	-	29	5832	c.5769G>T	c.(5767-5769)atG>atT	p.M1923I	TENM1_ENST00000371130.3_Missense_Mutation_p.M1916I|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCATGCTAGGCATGGTGACTG	0.498000													5	91					0.014758	0.015333	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587189	55587189	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:55587189C>A	ENST00000333976.4	+	1	104	c.84C>A	c.(82-84)ctC>ctA	p.L28L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAGTCCCACTCTTCCTGGTTT	0.463000													22	90					2.21704e-12	3.34647e-12	1	1	0
C10orf55	414236	broad.mit.edu	37	10	75672001	75672001	+	Translation_Start_Site	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:75672001A>G	ENST00000409178.1	-	4	342	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Silent_p.T38T|PLAU_ENST00000446342.1_Silent_p.T21T|C10orf55_ENST00000412307.2_Start_Codon_SNP_p.M1T	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	1										endometrium(1)	1	Prostate(51;0.0112)					ATGGAGGAACATGTGTGTCCA	0.527000													12	64					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043188	46043188	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:46043188C>A	ENST00000295452.4	-	9	1382	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	405					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCTCCAAACACTGATACCCAT	0.433000													15	67					2.62699e-14	4.02861e-14	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118570996	118570996	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:118570996G>T	ENST00000336338.5	-	26	3696	c.3631C>A	c.(3631-3633)Cct>Act	p.P1211T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1211						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTAAAACAGGTTCTGGTTCT	0.398000													8	96					0.0692343	0.0711616	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118373179	118373179	+	Missense_Mutation	SNP	G	G	A	rs141727765	byFrequency	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:118373179G>A	ENST00000534358.1	+	27	6595	c.6572G>A	c.(6571-6573)cGa>cAa	p.R2191Q	KMT2A_ENST00000389506.5_Missense_Mutation_p.R2188Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2150Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCTGGACTTCGAAGCATTGGC	0.453000													4	91					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462552	65462552	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:65462552C>A	ENST00000286574.4	-	4	904	c.530G>T	c.(529-531)tGt>tTt	p.C177F		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	177	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ACCTTGTTGACATGTTTTAAA	0.398000			T	HMGA2	pleomorphic salivary gland adenoma								28	59					9.39395e-14	1.43602e-13	1	1	0
GPHN	10243	broad.mit.edu	37	14	67576858	67576858	+	Splice_Site	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:67576858C>G	ENST00000478722.1	+	14	2416	c.1293_splice	c.e14-1	p.P432_splice	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Splice_Site_p.P399_splice|GPHN_ENST00000305960.9_Splice_Site_p.P368_splice|GPHN_ENST00000543237.1_Splice_Site_p.P445_splice	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	399	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TATTTCCAGCCAACTCAGACA	0.398000			T	MLL	AL								11	98					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658655	55658655	+	Silent	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:55658655G>C	ENST00000449290.2	+	7	998	c.906G>C	c.(904-906)ctG>ctC	p.L302L	TRIM51_ENST00000244891.3_Silent_p.L159L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	302	B30.2/SPRY.					intracellular	zinc ion binding										ATATCTTCCTGTGTGGAGATT	0.353000													24	126					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445437	32445437	+	Silent	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:32445437A>T	ENST00000282587.5	+	14	1078	c.1041A>T	c.(1039-1041)gcA>gcT	p.A347A	SLC30A6_ENST00000357055.3_Silent_p.A150A|SLC30A6_ENST00000435660.1_Silent_p.A324A|SLC30A6_ENST00000406369.1_Silent_p.A273A|SLC30A6_ENST00000379343.2_Silent_p.A387A|SLC30A6_ENST00000538303.1_Silent_p.A318A	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	347						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCCTGTTGCAGCCAATGTCC	0.428000													9	110					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88480265	88480265	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:88480265T>G	ENST00000552810.1	-	33	4548	c.4205A>C	c.(4204-4206)gAa>gCa	p.E1402A	CEP290_ENST00000309041.7_Missense_Mutation_p.E1404A|CEP290_ENST00000547691.2_Missense_Mutation_p.E462A|CEP290_ENST00000397838.3_Missense_Mutation_p.E462A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1402					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGTCTTTCTTCATGAAA	0.368000													3	5					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153015	5153015	+	Silent	SNP	G	G	T	rs139029637	by1000genomes	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:5153015G>T	ENST00000307388.1	-	1	857	c.858C>A	c.(856-858)gtC>gtA	p.V286V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAAGGTGGGACTAACAGGT	0.378000													20	85					0.000132079	0.000156925	1	1	0
OR51I2	390064	broad.mit.edu	37	11	5474828	5474828	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:5474828T>A	ENST00000341449.2	+	1	191	c.110T>A	c.(109-111)gTg>gAg	p.V37E	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTATGCTGTGGCCCTTGGG	0.557000													11	53					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545842	211545842	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:211545842G>T	ENST00000261464.5	+	11	1526	c.1472G>T	c.(1471-1473)gGc>gTc	p.G491V	TRAF5_ENST00000427925.2_Missense_Mutation_p.G385V|TRAF5_ENST00000367004.3_Missense_Mutation_p.G491V|TRAF5_ENST00000336184.2_Missense_Mutation_p.G491V	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	491	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GACCAGAGTGGCAAAAAGAAC	0.502000													5	78					1.23904e-05	1.53283e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179453673	179453673	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:179453673G>A	ENST00000589042.1	-	304	63003	c.62779C>T	c.(62779-62781)Cgt>Tgt	p.R20927C	TTN_ENST00000342175.6_Missense_Mutation_p.R12054C|TTN_ENST00000342992.6_Missense_Mutation_p.R18359C|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11987C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19286C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11862C|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19286	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTATGAGACGTGTTACTGTA	0.383000													6	39					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36848061	36848061	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:36848061G>T	ENST00000279024.4	-	11	2798	c.2527C>A	c.(2527-2529)Ctg>Atg	p.L843M		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	843										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGGCGGCCCAGGCGGACACGG	0.627000													19	101					2.89027e-11	4.2687e-11	1	1	0
SGCZ	137868	broad.mit.edu	37	8	13948038	13948038	+	Missense_Mutation	SNP	C	C	A	rs139184216		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:13948038C>A	ENST00000382080.1	-	8	1568	c.853G>T	c.(853-855)Gtc>Ttc	p.V285F	SGCZ_ENST00000421524.2_Missense_Mutation_p.V238F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	272					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.V285I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTGGGGCAGACGCAGAGTTCA	0.483000													23	86					7.88262e-20	1.25287e-19	1	1	0
FANCC	2176	broad.mit.edu	37	9	97897669	97897669	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:97897669A>T	ENST00000289081.3	-	8	1056	c.802T>A	c.(802-804)Tgt>Agt	p.C268S	FANCC_ENST00000375305.1_Missense_Mutation_p.C268S	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	268					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CTTCTCAGACAATTTCTCTCA	0.438000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	43					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155551291	155551291	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:155551291T>C	ENST00000392845.2	-	4	1612	c.1232A>G	c.(1231-1233)tAt>tGt	p.Y411C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y411C	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	411					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTACGATATAGTAATATAT	0.378000													5	71					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041630	14041630	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:14041630G>C	ENST00000311895.7	+	11	2186	c.2177G>C	c.(2176-2178)cGc>cCc	p.R726P		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	726	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TGCGTGGAGCGCAAGAGTATC	0.498000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				23	135					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172942561	172942561	+	Silent	SNP	A	A	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:172942561A>C	ENST00000315796.4	+	7	1128	c.741A>C	c.(739-741)ccA>ccC	p.P247P	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	247					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AAGTCTGTCCACATTTTGTGG	0.333000													13	39					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219536	180219536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:180219536C>A	ENST00000446023.2	-	3	1186	c.436G>T	c.(436-438)Gag>Tag	p.E146*	MGAT1_ENST00000307826.4_Nonsense_Mutation_p.E146*|MGAT1_ENST00000427865.2_Nonsense_Mutation_p.E146*|MGAT1_ENST00000393340.3_Nonsense_Mutation_p.E146*|MGAT1_ENST00000333055.3_Nonsense_Mutation_p.E146*	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	146					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTCTCCTCGTGCCCGCAG	0.667000													7	60					0.00307968	0.00339047	1	1	0
TRIB2	28951	broad.mit.edu	37	2	12880672	12880672	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:12880672C>A	ENST00000155926.4	+	3	2203	c.784C>A	c.(784-786)Ctc>Atc	p.L262I	TRIB2_ENST00000381465.2_Missense_Mutation_p.L126I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	262	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCAGCTCCCTCTTCAGCAA	0.592000													8	38					0.00307968	0.00339047	1	1	0
GJB2	2706	broad.mit.edu	37	13	20763553	20763553	+	Silent	SNP	C	C	A	rs80338942		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:20763553C>A	ENST00000382844.1	-	1	366	c.168G>T	c.(166-168)ctG>ctT	p.L56L	GJB2_ENST00000382848.4_Silent_p.L56L			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	56					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		AGCCTGGCTGCAGGGTGTTGC	0.572000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	76					0.000422831	0.000486712	1	1	0
DYSF	8291	broad.mit.edu	37	2	71791192	71791192	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:71791192A>T	ENST00000258104.3	+	24	2637	c.2360A>T	c.(2359-2361)cAg>cTg	p.Q787L	DYSF_ENST00000410041.1_Missense_Mutation_p.Q805L|DYSF_ENST00000409582.3_Missense_Mutation_p.Q804L|DYSF_ENST00000409366.1_Missense_Mutation_p.Q788L|DYSF_ENST00000394120.2_Missense_Mutation_p.Q788L|DYSF_ENST00000410020.3_Missense_Mutation_p.Q805L|DYSF_ENST00000409762.1_Missense_Mutation_p.Q804L|DYSF_ENST00000413539.2_Missense_Mutation_p.Q818L|DYSF_ENST00000429174.2_Missense_Mutation_p.Q787L|DYSF_ENST00000409744.1_Missense_Mutation_p.Q774L|DYSF_ENST00000409651.1_Missense_Mutation_p.Q819L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	787						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTCAGCCCCAGAACAGCCTG	0.657000													5	46					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33960892	33960892	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr22:33960892C>A	ENST00000354992.2	-	7	1300	c.729G>T	c.(727-729)acG>acT	p.T243T	LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000402320.1_Silent_p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	243					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTGATATCCGTGTCAAGGA	0.478000													26	78					2.44723e-14	3.76497e-14	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805102	54805102	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:54805102G>A	ENST00000306858.7	+	5	1449	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	445										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCAGAGTTTTGCCAATCGGCT	0.463000													10	67					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044981	119044981	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:119044981A>T	ENST00000334464.5	-	5	1502	c.1261_splice	c.e5-1	p.G421_splice	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	421	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGATTTTCACACCTGGTTTAA	0.338000													5	33					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67339135	67339135	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:67339135T>A	ENST00000355520.5	-	16	1957	c.1316A>T	c.(1315-1317)gAc>gTc	p.D439V	OPHN1_ENST00000540071.1_Missense_Mutation_p.D439V	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	439	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AATGTCCCAGTCACTATTATG	0.348000													6	46					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137897272	137897272	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:137897272G>A	ENST00000297185.3	-	10	1304	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	393					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCATACCTTGGGCATCCTAG	0.502000													8	42					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51503747	51503747	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:51503747G>T	ENST00000371117.3	-	64	11681	c.11406C>A	c.(11404-11406)acC>acA	p.T3802T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3802					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTCTGCCTGGGTGCACCCTA	0.393000													19	86					1.45105e-14	2.23957e-14	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20453524	20453524	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:20453524C>A	ENST00000202677.6	-	37	5586	c.5444G>T	c.(5443-5445)tGc>tTc	p.C1815F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1815	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCGTTGATGCACGTGGCACA	0.458000													5	28					0.000602214	0.000684983	1	1	0
TCP10	6953	broad.mit.edu	37	6	167789462	167789462	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:167789462C>G	ENST00000366827.2	-	6	891	c.680G>C	c.(679-681)aGa>aCa	p.R227T	TCP10_ENST00000397829.4_Missense_Mutation_p.R227T			Q12799	TCP10_HUMAN	t-complex 10	254						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		ACCAGCTCCTCTGGCTGCTGC	0.567000													3	9					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60749182	60749182	+	Silent	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:60749182C>G	ENST00000303375.5	+	7	1692	c.1290C>G	c.(1288-1290)acC>acG	p.T430T		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	430	C-type lectin 2.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AATTCATCACCAAGCAGATCA	0.632000													7	38					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820165	159820165	+	RNA	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:159820165C>T	ENST00000497452.1	-	0	517																											GTCCAATACTCAAGACAGGCT	0.418000													31	152					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672708	3672708	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:3672708C>G	ENST00000344754.4	-	16	4171	c.4172G>C	c.(4171-4173)gGg>gCg	p.G1391A	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G1391A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1391	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGTGGACCCCGCTGCTCGT	0.602000													6	24					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706778	33706778	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr18:33706778C>T	ENST00000269187.5	-	2	406	c.193G>A	c.(193-195)Gga>Aga	p.G65R	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.G65R	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	65						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTATTTTCTCCATAGCGGTAG	0.368000													17	96					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636303	74636303	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:74636303T>A	ENST00000358632.4	-	4	877	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.Q219L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.Q61L	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	219					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CAGCATCCCCTGGCGCTCCCC	0.582000													15	60					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983376	149983376	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:149983376T>A	ENST00000543571.1	-	8	3431		c.e8-2		LATS1_ENST00000253339.5_Splice_Site	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1						cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTTGATAACCTTTAAAGATTT	0.333000													9	47					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588785	247588785	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:247588785C>A	ENST00000366497.2	+	4	2820	c.2040C>A	c.(2038-2040)tcC>tcA	p.S680S	NLRP3_ENST00000348069.2_Silent_p.S680S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.S680S|NLRP3_ENST00000366496.2_Silent_p.S680S|NLRP3_ENST00000336119.3_Silent_p.S680S|NLRP3_ENST00000391827.2_Silent_p.S680S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	680					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGTCACTGTCCCTGGGGTTTC	0.502000													9	47					0.00621372	0.00668741	1	1	0
MYO10	4651	broad.mit.edu	37	5	16671037	16671037	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:16671037G>T	ENST00000513610.1	-	39	5935	c.5481C>A	c.(5479-5481)ctC>ctA	p.L1827L	MYO10_ENST00000427430.2_Silent_p.L1184L|MYO10_ENST00000515803.1_Silent_p.L1166L|MYO10_ENST00000274203.9_Silent_p.L1184L|MYO10_ENST00000505695.1_Silent_p.L1166L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1827	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAAGAACCTGGAGGTTTTCTT	0.562000													6	29					0.0215528	0.0223441	1	1	0
ADCY1	107	broad.mit.edu	37	7	45750210	45750210	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:45750210G>T	ENST00000297323.7	+	19	3038	c.3016G>T	c.(3016-3018)Gcc>Tcc	p.A1006S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1006					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGTCAACGTGGCCAGTCGGAT	0.567000													7	58					2.7689e-08	3.81917e-08	1	1	0
DPP10	57628	broad.mit.edu	37	2	116525923	116525923	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:116525923G>T	ENST00000410059.1	+	13	1644	c.1164G>T	c.(1162-1164)gtG>gtT	p.V388V	DPP10_ENST00000393147.2_Silent_p.V392V|DPP10_ENST00000310323.8_Silent_p.V381V|DPP10_ENST00000409163.1_Silent_p.V338V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	388					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTATGACAGTGCCTGTTAAGC	0.438000													8	37					5.68852e-11	8.24922e-11	1	1	0
CRISP2	7180	broad.mit.edu	37	6	49665656	49665656	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:49665656C>A	ENST00000339139.4	-	8	668	c.432G>T	c.(430-432)tcG>tcT	p.S144S		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	144						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCTGGTAAGTCGAGTACCAAA	0.318000													13	66					0.000219431	0.000258155	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191361	152191361	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:152191361C>T	ENST00000368801.2	-	3	2819	c.2744G>A	c.(2743-2745)cGg>cAg	p.R915Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	915					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGACCGACCGGAGCC	0.622000													28	284					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447686	179447686	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:179447686G>T	ENST00000589042.1	-	313	66068	c.65844C>A	c.(65842-65844)acC>acA	p.T21948T	TTN_ENST00000342175.6_Silent_p.T13075T|TTN_ENST00000342992.6_Silent_p.T19380T|TTN_ENST00000359218.5_Silent_p.T13008T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T20307T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T12883T|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20307	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCTTAATGGTGGCTGATT	0.388000													3	25					0.00024832	0.000288604	1	1	0
SPAG9	9043	broad.mit.edu	37	17	49124736	49124736	+	Splice_Site	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:49124736C>G	ENST00000262013.7	-	4	798	c.590_splice	c.e4+1	p.R197_splice	SPAG9_ENST00000505279.1_Splice_Site_p.R197_splice|SPAG9_ENST00000357122.4_Splice_Site_p.R197_splice|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	197					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAAAGCTTACCTAATTCTACT	0.303000													9	86					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72951130	72951130	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:72951130A>G	ENST00000262209.4	-	19	2472	c.2265T>C	c.(2263-2265)acT>acC	p.T755T	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	755						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATGATCACTAGTTTCATTGA	0.303000													12	53					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479455	156479455	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:156479455G>T	ENST00000339252.3	-	3	1122	c.590C>A	c.(589-591)cCa>cAa	p.P197Q	HAVCR1_ENST00000425854.1_Missense_Mutation_p.P197Q|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P197Q|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P197Q|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P197Q	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	192	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTGTTGTTGGAATGCTCGT	0.453000													50	398					6.31075e-24	1.02337e-23	1	1	0
BBS9	27241	broad.mit.edu	37	7	33312624	33312624	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:33312624G>T	ENST00000242067.6	+	8	1224	c.702_splice	c.e8-1	p.V235_splice	BBS9_ENST00000425508.2_Splice_Site_p.V190_splice|BBS9_ENST00000354265.4_Splice_Site_p.V235_splice|BBS9_ENST00000396127.2_Splice_Site_p.V235_splice|BBS9_ENST00000355070.2_Splice_Site_p.V235_splice|BBS9_ENST00000350941.3_Splice_Site_p.V235_splice	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	235					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCTTTGTAGGTGGATTGGAC	0.333000									Bardet-Biedl syndrome				28	141					4.22769e-11	6.22483e-11	1	1	0
PDE2A	5138	broad.mit.edu	37	11	72289976	72289976	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:72289976G>T	ENST00000334456.5	-	28	2679	c.2434C>A	c.(2434-2436)Cag>Aag	p.Q812K	PDE2A_ENST00000540345.1_Missense_Mutation_p.Q803K|PDE2A_ENST00000544570.1_Missense_Mutation_p.Q805K|PDE2A_ENST00000376450.3_Missense_Mutation_p.Q556K|PDE2A_ENST00000418754.2_Missense_Mutation_p.Q697K|PDE2A_ENST00000444035.2_Missense_Mutation_p.Q803K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	812	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCCTTGGTCTGGTCAGAGAGG	0.597000													10	33					0.0692343	0.0711616	1	1	0
FGF12	2257	broad.mit.edu	37	3	192053230	192053230	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:192053230C>A	ENST00000454309.2	-	3	1159	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	FGF12_ENST00000445105.1_Missense_Mutation_p.G50C|FGF12_ENST00000450716.1_Missense_Mutation_p.G50C|FGF12_ENST00000264730.3_Missense_Mutation_p.G50C|FGF12_ENST00000430714.1_Missense_Mutation_p.G13C	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	112					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACACGCAGGCCCACGGGAATT	0.443000													15	74					4.14922e-12	6.24334e-12	1	1	0
PLEC	5339	broad.mit.edu	37	8	144997239	144997239	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:144997239C>T	ENST00000322810.4	-	31	7438	c.7269G>A	c.(7267-7269)gcG>gcA	p.A2423A	PLEC_ENST00000354589.3_Silent_p.A2286A|PLEC_ENST00000398774.2_Silent_p.A2254A|PLEC_ENST00000356346.3_Silent_p.A2272A|PLEC_ENST00000345136.3_Silent_p.A2286A|PLEC_ENST00000357649.2_Silent_p.A2290A|PLEC_ENST00000354958.2_Silent_p.A2264A|PLEC_ENST00000527096.1_Silent_p.A2309A|PLEC_ENST00000436759.2_Silent_p.A2313A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2423	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCTTGGGCCGCCACACTCA	0.642000													6	23					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502746	90502746	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:90502746G>A	ENST00000325643.5	+	4	3410	c.3344G>A	c.(3343-3345)cGt>cAt	p.R1115H		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTGCCAGGCCGTGCCCCGGGC	0.642000													5	48					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790367	248790367	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:248790367G>T	ENST00000330803.2	-	1	124	c.63C>A	c.(61-63)gcC>gcA	p.A21A		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATACAATCCCGGCAGCCTCAC	0.532000													25	78					8.24728e-16	1.28948e-15	1	1	0
PYROXD1	79912	broad.mit.edu	37	12	21608979	21608979	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:21608979G>A	ENST00000538582.1	+	7	1240	c.487G>A	c.(487-489)Gca>Aca	p.A163T	PYROXD1_ENST00000240651.9_Missense_Mutation_p.A234T|PYROXD1_ENST00000545178.1_3'UTR			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	234							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGTAGGAAGTGCATTGGGACC	0.303000													11	54					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5932746	5932746	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:5932746G>A	ENST00000378896.3	+	2	462	c.85G>A	c.(85-87)Gga>Aga	p.G29R	MCM8_ENST00000265187.4_Missense_Mutation_p.G29R|MCM8_ENST00000378883.1_Missense_Mutation_p.G29R|MCM8_ENST00000378886.2_Missense_Mutation_p.G29R	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	29					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAACTTCTCAGGAAAATGGAG	0.418000													9	63					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305711	32305711	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:32305711C>A	ENST00000357033.4	-	43	6431	c.6225G>T	c.(6223-6225)caG>caT	p.Q2075H	DMD_ENST00000378677.2_Missense_Mutation_p.Q2071H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2075					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAGAGCTTCCTGTAGCTTCA	0.418000													10	77					5.16669e-11	7.51518e-11	1	1	0
TXLNA	200081	broad.mit.edu	37	1	32650179	32650179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:32650179G>T	ENST00000373609.1	+	3	840	c.559G>T	c.(559-561)Gag>Tag	p.E187*	TXLNA_ENST00000373610.3_Nonsense_Mutation_p.E187*			P40222	TXLNA_HUMAN	taxilin alpha	187					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TACCCCAGAGGAGAAGCTGGC	0.547000													16	101					3.45872e-05	4.22439e-05	1	1	0
CPLX3	594855	broad.mit.edu	37	15	75122474	75122474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:75122474G>T	ENST00000395018.4	+	3	413	c.256G>T	c.(256-258)Gag>Tag	p.E86*	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	86						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						CCTTCAGAACGAGACAGATGA	0.607000													7	33					2.0095e-06	2.60692e-06	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58298772	58298772	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:58298772G>C	ENST00000377918.3	+	4	2850	c.2824G>C	c.(2824-2826)Gat>Cat	p.D942H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	942					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TAATTGCACAGATGAATGCCG	0.423000													11	49					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391405	1391405	+	Missense_Mutation	SNP	G	G	T	rs139469260	byFrequency	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:1391405G>T	ENST00000324385.5	+	8	909	c.751G>T	c.(751-753)Ggt>Tgt	p.G251C	BAIAP3_ENST00000421665.2_Missense_Mutation_p.G216C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G233C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G216C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G233C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G188C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G193C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	251	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGCAAGCGCGGTGGACCCCT	0.667000													18	70					2.35188e-11	3.50591e-11	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589142	140589142	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:140589142C>A	ENST00000239450.2	+	1	852	c.663C>A	c.(661-663)ccC>ccA	p.P221P	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		221	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCTCCCAGGTCTGGAA	0.502000													19	83					5.3912e-06	6.84597e-06	1	1	0
CCDC70	83446	broad.mit.edu	37	13	52439616	52439616	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:52439616C>T	ENST00000242819.4	+	2	398	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	34						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CATCCTCTCCCAGTATTCGCC	0.507000													21	68					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172049	207172049	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:207172049G>C	ENST00000374423.3	+	5	3183	c.2797G>C	c.(2797-2799)Gat>Cat	p.D933H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	933							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACGTTCTGAAGATCCCATTAA	0.343000													7	34					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12379950	12379950	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:12379950G>A	ENST00000256186.2	+	9	2303	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	671					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGGAACAACGCATCAGAGAA	0.493000													42	232					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23647163	23647163	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:23647163G>T	ENST00000261584.4	-	4	856	c.704C>A	c.(703-705)aCa>aAa	p.T235K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	235	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCTTAGGAATGTATCAACACC	0.403000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					8	254					0.00448238	0.00487878	1	1	0
LRRTM3	347731	broad.mit.edu	37	10	68688196	68688196	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:68688196T>C	ENST00000361320.4	+	2	2100	c.1522T>C	c.(1522-1524)Tcc>Ccc	p.S508P	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	508						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAAATCGGGCTCCAGGGAGTG	0.468000													10	66					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108719012	108719012	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:108719012G>T	ENST00000218006.2	-	2	445	c.154C>A	c.(154-156)Ccc>Acc	p.P52T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	52					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATCTTGTAGGGGAGTGTCCAC	0.567000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	67					6.40141e-05	7.68169e-05	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25467188	25467188	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:25467188C>T	ENST00000264709.3	-	15	2024	c.1687G>A	c.(1687-1689)Gtg>Atg	p.V563M	DNMT3A_ENST00000380746.4_Missense_Mutation_p.V374M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.V563M|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.V340M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	563	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGGTCCACACACTCCACG	0.622000			"""Mis, F, N, S"""		AML								9	16					0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111745877	111745877	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:111745877T>A	ENST00000260257.4	-	5	1691	c.1644A>T	c.(1642-1644)aaA>aaT	p.K548N	ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.K399N|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	548	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CATCAAATCCTTTCTTCTGAT	0.393000													5	37					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092507	159092507	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:159092507C>A	ENST00000296530.8	-	2	642	c.21G>T	c.(19-21)ccG>ccT	p.P7P	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Silent_p.P7P|FAM198B_ENST00000585682.1_Silent_p.P7P|FAM198B_ENST00000393807.5_Silent_p.P7P|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	7						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGAGCTGCCCCGGCTTGTCTG	0.562000													9	32					0.00448238	0.00487878	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3424170	3424170	+	RNA	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:3424170G>T	ENST00000529482.1	+	0	829																											CCATCTGCTGGCAGCTTTAGA	0.562000													3	14					0.00024832	0.000288604	1	1	0
NID2	22795	broad.mit.edu	37	14	52477609	52477609	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:52477609A>T	ENST00000216286.5	-	18	3706	c.3707T>A	c.(3706-3708)gTg>gAg	p.V1236E	NID2_ENST00000541773.1_Missense_Mutation_p.V1135E	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1236						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATTGGATCCACAGCGATGGC	0.522000													6	117					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841704	70841704	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:70841704T>C	ENST00000393567.2	-	86	15295	c.15145A>G	c.(15145-15147)Atg>Gtg	p.M5049V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5049										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGGTCACCATGTGATAGAAG	0.532000													6	91					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408461	215408461	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:215408461G>T	ENST00000444842.2	+	7	1404	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	KCNK2_ENST00000391894.2_Missense_Mutation_p.E403D|KCNK2_ENST00000391895.2_Missense_Mutation_p.E414D	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	418	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CTGGTGAAGAGATTGCTGTGA	0.458000													15	82					6.72482e-11	9.72264e-11	1	1	0
C15orf27	123591	broad.mit.edu	37	15	76496149	76496149	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:76496149C>A	ENST00000388942.3	+	11	1365	c.1089C>A	c.(1087-1089)aaC>aaA	p.N363K		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	363						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACCAGCCCAACATCTCCTCGG	0.607000													25	144					4.59853e-10	6.54983e-10	1	1	0
DERL1	79139	broad.mit.edu	37	8	124031533	124031533	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:124031533C>T	ENST00000259512.4	-	7	819	c.519G>A	c.(517-519)gaG>gaA	p.E173E	DERL1_ENST00000419562.2_Silent_p.E73E|DERL1_ENST00000519018.1_Silent_p.E73E|DERL1_ENST00000405944.3_Intron|DERL1_ENST00000523036.1_Silent_p.E73E|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	173					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCAATAAGCTCATTGATTA	0.368000													3	23					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747978	88747978	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:88747978G>A	ENST00000332281.5	-	2	307	c.221C>T	c.(220-222)cCa>cTa	p.P74L	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	74					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CTCGATCCGTGGCAGGAGGGG	0.697000													9	32					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75977206	75977206	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:75977206C>T	ENST00000308508.5	-	5	4412	c.4320G>A	c.(4318-4320)ctG>ctA	p.L1440L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1440	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AACTGTCTGTCAGTGTCTCGC	0.607000													20	79					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324282	27324282	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:27324282C>G	ENST00000376087.4	-	24	3262	c.3097G>C	c.(3097-3099)Gct>Cct	p.A1033P	ANKRD26_ENST00000376070.3_Missense_Mutation_p.A590P|ANKRD26_ENST00000436985.2_Missense_Mutation_p.A1049P	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1032						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTCTGGAAAGCAAGTTCTAGT	0.368000													9	104					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228223	3228223	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:3228223G>T	ENST00000217939.6	-	7	8175	c.8021C>A	c.(8020-8022)cCc>cAc	p.P2674H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2674	Ig-like C2-type 11.					extracellular region		p.P2674H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATGCCATTGGGGAGCGTCCA	0.602000													15	96					3.41278e-10	4.9046e-10	1	1	0
ABO	28	broad.mit.edu	37	9	136131529	136131529	+	RNA	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:136131529C>A	ENST00000453660.2	-	0	599							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AAGCGCCGCTCGCAGAAGTCA	0.647000													5	13					1.23904e-05	1.53283e-05	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58571124	58571124	+	Splice_Site	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:58571124T>C	ENST00000317147.5	-	39	5747	c.5414_splice	c.e39-1	p.G1805_splice	CNOT1_ENST00000245138.4_Splice_Site_p.G656_splice|CNOT1_ENST00000569240.1_Splice_Site_p.G1800_splice	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1805					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTGGGGCAATCTAGCACAAT	0.418000													14	70					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45374866	45374866	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr18:45374866T>G	ENST00000402690.2	-	8	1371	c.977A>C	c.(976-978)gAa>gCa	p.E326A	SMAD2_ENST00000586040.1_Missense_Mutation_p.E296A|SMAD2_ENST00000262160.6_Missense_Mutation_p.E326A|SMAD2_ENST00000356825.4_Missense_Mutation_p.E296A|SMAD2_ENST00000591214.1_Missense_Mutation_p.E296A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	326	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCTTGTCATTTCTACCGTGGC	0.398000													13	83					0	0	1	0	0
CHIAP2	149620	broad.mit.edu	37	1	111824376	111824376	+	RNA	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:111824376T>A	ENST00000369743.4	+	0	260					NR_003928.1																						GAAAAACAAGTAAATGACGGA	0.418000													6	48					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915261	119915261	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:119915261G>T	ENST00000331113.4	+	1	1540	c.575G>T	c.(574-576)gGg>gTg	p.G192V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	192					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TATGTCACGGGGTTTTTCATT	0.572000													13	62					9.31168e-06	1.16396e-05	1	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40652822	40652822	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:40652822A>T	ENST00000343619.4	+	16	1900	c.1777A>T	c.(1777-1779)Aag>Tag	p.K593*	ATP6V0A1_ENST00000585525.1_Nonsense_Mutation_p.K550*|ATP6V0A1_ENST00000546249.1_Nonsense_Mutation_p.K593*|ATP6V0A1_ENST00000544137.1_Nonsense_Mutation_p.K239*|ATP6V0A1_ENST00000537728.1_Nonsense_Mutation_p.K550*|ATP6V0A1_ENST00000393829.2_Nonsense_Mutation_p.K593*|ATP6V0A1_ENST00000264649.6_Nonsense_Mutation_p.K600*	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	593					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TATTTTTTACAAGTGGACGGC	0.383000													14	152					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170346493	170346493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:170346493C>T	ENST00000523189.1	+	11	1314	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	384					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACTCTGTGGCAAAGGATGGT	0.363000			T	TRD@	ALL								8	74					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070125	141070125	+	RNA	SNP	C	C	T	rs10867114	by1000genomes	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:141070125C>T	ENST00000503395.1	+	0	1205																											CGCTCGGGGCCCTTCGGGCAG	0.672000													5	72					0	0	1	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029416	38029416	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:38029416A>G	ENST00000287218.4	+	3	607	c.160A>G	c.(160-162)Aac>Gac	p.N54D	ZFAND3_ENST00000373391.2_Missense_Mutation_p.N54D	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	54							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AAGTACAAGTAACAGCCAATC	0.443000													6	65					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328098	160328098	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:160328098G>T	ENST00000252660.4	+	1	125	c.111G>T	c.(109-111)tgG>tgT	p.W37C		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	37					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCGTGCACTGGGTCATTATGA	0.502000													34	96					7.16923e-06	9.07976e-06	1	1	0
DMD	1756	broad.mit.edu	37	X	32305710	32305710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:32305710C>A	ENST00000357033.4	-	43	6432	c.6226G>T	c.(6226-6228)Gaa>Taa	p.E2076*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E2072*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2076					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGAGAGCTTCCTGTAGCTTC	0.418000													10	77					5.16669e-11	7.51518e-11	1	1	0
MADD	8567	broad.mit.edu	37	11	47317068	47317068	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:47317068A>T	ENST00000342922.4	+	21	3781	c.3424A>T	c.(3424-3426)Atc>Ttc	p.I1142F	MADD_ENST00000311027.5_Missense_Mutation_p.I1180F|MADD_ENST00000407859.3_Missense_Mutation_p.I1119F|MADD_ENST00000402192.2_Missense_Mutation_p.I1142F|MADD_ENST00000395344.3_Missense_Mutation_p.I1099F|MADD_ENST00000402799.1_Missense_Mutation_p.I1099F|MADD_ENST00000406482.1_Missense_Mutation_p.I1099F|MADD_ENST00000349238.3_Missense_Mutation_p.I1162F|MADD_ENST00000395336.3_Missense_Mutation_p.I1180F|MADD_ENST00000405573.2_5'UTR	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1180					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGACTCTGTCATCGGCGTGAG	0.498000													10	65					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143255	126143255	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:126143255C>T	ENST00000263578.5	+	4	516	c.442C>T	c.(442-444)Cct>Tct	p.P148S	FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.P134S|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	148						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTCGATGCTCCTCCCCTGGA	0.552000													13	111					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903542	129903542	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:129903542C>A	ENST00000368654.3	-	13	6937	c.6562G>T	c.(6562-6564)Gcc>Tcc	p.A2188S	MKI67_ENST00000368653.3_Missense_Mutation_p.A1828S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2188	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGGGTTGGGCTTTTCCCTTA	0.483000													33	181					1.30897e-18	2.0668e-18	1	1	0
OR7A17	26333	broad.mit.edu	37	19	14991685	14991685	+	Silent	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:14991685T>C	ENST00000327462.2	-	1	579	c.483A>G	c.(481-483)ttA>ttG	p.L161L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ACAATACCATTAAGCTTTGTG	0.478000													24	119					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113965706	113965706	+	Silent	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:113965706G>C	ENST00000276198.1	+	4	767	c.39G>C	c.(37-39)gtG>gtC	p.V13V	HTR2C_ENST00000371951.1_Silent_p.V13V|HTR2C_ENST00000371950.3_Silent_p.V13V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	13					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTTCAGTGTGCACCTAATTG	0.363000													8	105					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964079	209964079	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:209964079A>T	ENST00000367021.3	-	7	993	c.821T>A	c.(820-822)gTc>gAc	p.V274D	IRF6_ENST00000542854.1_Missense_Mutation_p.V179D	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	274			V -> I (common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child; dbSNP:rs2235371).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGAATTTGACCTGCTCCAG	0.567000										HNSCC(57;0.16)			16	66					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52732935	52732935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:52732935G>T	ENST00000360540.5	-	7	1456	c.1050C>A	c.(1048-1050)taC>taA	p.Y350*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.Y274*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.Y350*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	350						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATATGTCAAGTAAGCTTTTA	0.338000													7	62					0.307466	0.31005	1	1	0
IGKV1D-12	28903	broad.mit.edu	37	2	90198980	90198980	+	RNA	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:90198980G>T	ENST00000390276.2	+	0	322																											CTTGTCGGGCGAGTCAGGGTA	0.517000													10	122					4.36969e-10	6.24242e-10	1	1	0
CENPE	1062	broad.mit.edu	37	4	104103946	104103946	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:104103946A>G	ENST00000265148.3	-	11	1025	c.936T>C	c.(934-936)tcT>tcC	p.S312S	CENPE_ENST00000380026.3_Silent_p.S312S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	312	Kinesin-motor.				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			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)		TTTCATCAAAAGATACTGGAG	0.353000													10	49					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434963	31434963	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:31434963C>A	ENST00000389202.2	+	26	3088	c.3039C>A	c.(3037-3039)ccC>ccA	p.P1013P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1013					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAAGAAGTCCCATGCTGGTGA	0.537000													11	76					0.00829132	0.00886377	1	1	0
MARCH1	55016	broad.mit.edu	37	4	164534487	164534487	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:164534487G>T	ENST00000503008.1	-	5	1197	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	MARCH1_ENST00000339875.5_Missense_Mutation_p.P57Q|MARCH1_ENST00000514618.1_Missense_Mutation_p.P74Q|MARCH1_ENST00000274056.7_Missense_Mutation_p.P74Q	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	74					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGAGTGGATGGACAGACAGA	0.418000													15	53					0.000308642	0.000356125	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105160931	105160931	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:105160931G>A	ENST00000436393.2	+	23	3484	c.3243G>A	c.(3241-3243)gaG>gaA	p.E1081E	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	509					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTCACTGGAGAAGAATGATG	0.498000										HNSCC(12;0.0054)			7	59					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323521	79323521	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:79323521G>T	ENST00000428286.1	-	8	3792	c.2592C>A	c.(2590-2592)gtC>gtA	p.V864V	PRUNE2_ENST00000376718.3_Silent_p.V1223V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1223					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATCTCTCATGACAGAATCCC	0.448000													7	34					8.12818e-05	9.70529e-05	1	1	0
PGK2	5232	broad.mit.edu	37	6	49754625	49754625	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:49754625A>G	ENST00000304801.3	-	1	428	c.276T>C	c.(274-276)gaT>gaC	p.D92D		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	92					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGAACAGAACATCCTTGCCCA	0.512000													20	116					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113158417	113158417	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:113158417G>C	ENST00000261965.3	-	19	2422	c.2236C>G	c.(2236-2238)Cac>Gac	p.H746D	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.H746D	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	746					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCAATGATGTGATCCAAATCC	0.483000													18	78					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831727	27831727	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:27831727G>C	ENST00000396319.2	+	9	1229	c.1141G>C	c.(1141-1143)Gtc>Ctc	p.V381L	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V381L|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V381L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V381L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V224L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	381	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CAGTGATGCTGTCAACGTACG	0.443000													10	64					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531527	43531527	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:43531527A>G	ENST00000430334.3	-	7	1824	c.1691T>C	c.(1690-1692)cTc>cCc	p.L564P	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.L475P	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	564	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCTCAGGTAGAGGCGGAACTC	0.632000													5	30					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41906267	41906267	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:41906267G>C	ENST00000396930.3	-	3	772	c.229C>G	c.(229-231)Cct>Gct	p.P77A	KAT6A_ENST00000406337.1_Missense_Mutation_p.P77A|KAT6A_ENST00000265713.2_Missense_Mutation_p.P77A|KAT6A_ENST00000485568.1_Missense_Mutation_p.P77A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	77	Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ATTCGCCCAGGATTATCAGGA	0.363000													26	187					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22833489	22833489	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:22833489C>A	ENST00000454584.2	+	8	1174	c.869C>A	c.(868-870)aCt>aAt	p.T290N	GAS2_ENST00000278187.3_Missense_Mutation_p.T290N|GAS2_ENST00000433790.1_Missense_Mutation_p.T290N	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	290					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AAATCTCCAACTCTAAAGGAC	0.448000													15	63					1.15088e-07	1.55174e-07	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50598413	50598413	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:50598413G>T	ENST00000341247.4	-	6	935	c.786C>A	c.(784-786)ctC>ctA	p.L262L	LIMA1_ENST00000552909.1_Silent_p.L102L|LIMA1_ENST00000552823.1_Silent_p.L102L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.L262L|LIMA1_ENST00000552783.1_Silent_p.L102L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	262					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGGTTTCTGAGAGGCGTGGAA	0.413000													22	57					5.26018e-13	7.99014e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237732581	237732581	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:237732581G>T	ENST00000366574.2	+	29	3877	c.3560G>T	c.(3559-3561)gGc>gTc	p.G1187V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1171V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1185V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1187	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGATTCAGGCTCAGAACTG	0.443000													4	31					0.00909568	0.00963781	1	1	0
POLR2B	5431	broad.mit.edu	37	4	57861554	57861554	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:57861554C>G	ENST00000381227.1	+	7	1127	c.714C>G	c.(712-714)agC>agG	p.S238R	POLR2B_ENST00000431623.2_Missense_Mutation_p.S163R|POLR2B_ENST00000314595.5_Missense_Mutation_p.S238R|POLR2B_ENST00000441246.2_Missense_Mutation_p.S231R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	238					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TATGGGTTAGCATGCTGGCAA	0.403000													19	84					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351725	98351725	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:98351725C>A	ENST00000264972.5	+	10	1310	c.1095C>A	c.(1093-1095)gaC>gaA	p.D365E	ZAP70_ENST00000451498.2_Missense_Mutation_p.D58E|ZAP70_ENST00000442208.1_Missense_Mutation_p.D239E|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	365	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCAGATCGACGTGGCCATCA	0.667000													12	73					5.16669e-11	7.51518e-11	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4855345	4855345	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:4855345G>T	ENST00000252318.2	+	6	1431	c.1094G>T	c.(1093-1095)aGg>aTg	p.R365M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	365	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCTGCTAACAGGCACTTCCTG	0.537000													10	69					2.17888e-05	2.67484e-05	1	1	0
USH2A	7399	broad.mit.edu	37	1	216373051	216373051	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:216373051G>A	ENST00000366943.2	-	17	4115	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	USH2A_ENST00000307340.3_Silent_p.P1243P|USH2A_ENST00000366942.3_Silent_p.P1243P|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1243	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAGTCTTTGGGGAGGGGCCT	0.483000										HNSCC(13;0.011)			16	58					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36046592	36046592	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:36046592G>T	ENST00000540320.1	+	41	7038	c.6504G>T	c.(6502-6504)aaG>aaT	p.K2168N	NBEA_ENST00000379939.2_Missense_Mutation_p.K2165N|NBEA_ENST00000310336.4_Missense_Mutation_p.K2168N|NBEA_ENST00000400445.3_Missense_Mutation_p.K2168N			Q8NFP9	NBEA_HUMAN	neurobeachin	2168						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGGCCAAGGGGACTCTCT	0.567000													4	26					1	1	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77623698	77623698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:77623698C>T	ENST00000461745.1	+	14	2920	c.2020C>T	c.(2020-2022)Cag>Tag	p.Q674*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q674*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q690*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	674	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATGTATCGTCAGACTTCAGG	0.448000													7	63					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641567	106641567	+	RNA	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:106641567G>A	ENST00000390605.2	-	0	405																											TGTGTCTCTCGCACAGTAATA	0.532000													40	181					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58615251	58615251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:58615251G>A	ENST00000317147.5	-	11	1545	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q405*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q405*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	405					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACTCACCTGGCCTTCAGCA	0.388000													8	49					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13168519	13168519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:13168519G>A	ENST00000319217.7	-	22	3347	c.3100C>T	c.(3100-3102)Cga>Tga	p.R1034*	MPDZ_ENST00000381022.2_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.R1034*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1034	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAATGCTTCGAACGATCATC	0.383000													34	144					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197430434	197430434	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:197430434C>T	ENST00000273582.5	-	5	920	c.375G>A	c.(373-375)caG>caA	p.Q125Q	KIAA0226_ENST00000389665.5_Silent_p.Q185Q|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.Q185Q|KIAA0226_ENST00000296343.5_Silent_p.Q185Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	185	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACGCATCGATCTGAGCCAGGA	0.557000													8	33					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24584390	24584390	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr22:24584390G>T	ENST00000358321.3	+	15	2716	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	819					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCACGTCTGGGGTGCACAGCC	0.637000													10	43					3.07112e-06	3.94154e-06	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73022702	73022702	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:73022702A>G	ENST00000263674.3	+	1	3369	c.3019A>G	c.(3019-3021)Acc>Gcc	p.T1007A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1007	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGAGGACGTCACCAAGCAGTA	0.637000													9	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596221	179596221	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:179596221G>A	ENST00000589042.1	-	59	17496	c.17272C>T	c.(17272-17274)Cca>Tca	p.P5758S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4514S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5441S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5441	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGTAATTGGCAAGGAGCCC	0.488000													10	70					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151075070	151075070	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:151075070A>G	ENST00000474524.1	+	18	2664	c.2626A>G	c.(2626-2628)Aca>Gca	p.T876A	MED12L_ENST00000273432.4_Missense_Mutation_p.T736A|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	876					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAAGTTATACAACAGGACT	0.453000													8	56					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220503474	220503474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:220503474C>A	ENST00000358055.3	+	19	3418	c.2906C>A	c.(2905-2907)tCg>tAg	p.S969*	SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.S996*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.S969*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.S969*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.S996*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	969	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATAAGCGCTCGTGGTTCATC	0.602000													5	47					0.000602214	0.000684983	1	1	0
PLEC	5339	broad.mit.edu	37	8	144994826	144994826	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:144994826C>A	ENST00000322810.4	-	32	9743	c.9574G>T	c.(9574-9576)Gtg>Ttg	p.V3192L	PLEC_ENST00000354589.3_Missense_Mutation_p.V3055L|PLEC_ENST00000398774.2_Missense_Mutation_p.V3023L|PLEC_ENST00000356346.3_Missense_Mutation_p.V3041L|PLEC_ENST00000345136.3_Missense_Mutation_p.V3055L|PLEC_ENST00000357649.2_Missense_Mutation_p.V3059L|PLEC_ENST00000354958.2_Missense_Mutation_p.V3033L|PLEC_ENST00000527096.1_Missense_Mutation_p.V3078L|PLEC_ENST00000436759.2_Missense_Mutation_p.V3082L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3192	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AACAGGGCCACGGCCATGTCG	0.667000													16	53					4.7546e-09	6.71238e-09	1	1	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190602	39190602	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:39190602A>T	ENST00000344363.5	-	1	505	c.472T>A	c.(472-474)Tgc>Agc	p.C158S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	168						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGCAGCAGCAGACTGGGCGG	0.542000													4	38					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10921973	10921973	+	Silent	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:10921973A>G	ENST00000298232.7	-	17	1363	c.996T>C	c.(994-996)tgT>tgC	p.C332C	TPTE_ENST00000342420.5_Silent_p.C312C|TPTE_ENST00000361285.4_Silent_p.C350C|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	350	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAGGAAGGCACAAACCATAG	0.333000													8	99					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155510605	155510605	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:155510605C>A	ENST00000302053.3	-	2	242	c.164G>T	c.(163-165)tGc>tTc	p.C55F	FGA_ENST00000403106.3_Missense_Mutation_p.C55F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	55					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCATCAGAGCAGAAGGGCCA	0.547000													9	71					3.86212e-05	4.65783e-05	1	1	0
NPHP4	261734	broad.mit.edu	37	1	5924047	5924047	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:5924047T>A	ENST00000378156.4	-	29	4308	c.4043A>T	c.(4042-4044)aAg>aTg	p.K1348M	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1348					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGATCCTCTTGTTGACACC	0.627000													5	22					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284290	130284290	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:130284290G>A	ENST00000358511.6	+	3	1145	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D372N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	372	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCGCCAGCGACACCCAGTT	0.542000													19	116					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476201	120476201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:120476201C>T	ENST00000355622.6	+	3	1896	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q559*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	599	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGACCAGAGGCAGCTCTTGGT	0.433000													12	44					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509158	228509158	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:228509158G>T	ENST00000570156.2	+	66	17561	c.17487G>T	c.(17485-17487)atG>atT	p.M5829I	OBSCN_ENST00000366709.4_Missense_Mutation_p.M1991I|OBSCN_ENST00000366707.4_Missense_Mutation_p.M2506I|OBSCN_ENST00000284548.11_Missense_Mutation_p.M4872I|OBSCN_ENST00000422127.1_Missense_Mutation_p.M4872I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4872	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATCCCTCAATGGACAAGGCAG	0.597000													3	12					1	1	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70303923	70303923	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:70303923C>T	ENST00000310961.5	+	8	923	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	LRRC7_ENST00000035383.5_Missense_Mutation_p.R164W|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	164						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGTCAAATTGCGGATCTTGGA	0.299000													3	25					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11660568	11660568	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:11660568C>A	ENST00000592923.1	+	8	1279	c.702C>A	c.(700-702)ccC>ccA	p.P234P	CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P|CNN1_ENST00000544952.1_Silent_p.P264P			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	284					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632000													15	78					0.00400662	0.00438082	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37746084	37746084	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:37746084A>T	ENST00000539465.1	+	16	4648	c.4055A>T	c.(4054-4056)gAg>gTg	p.E1352V	FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1352V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1352						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGAGACAGAGGAAGAAGAC	0.637000													38	179					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036136	57036136	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:57036136G>A	ENST00000371149.3	-	4	1446	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	APCDD1L_ENST00000439429.1_Missense_Mutation_p.L417F	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	406						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			ACATGCGGGAGCCGGATGCCC	0.627000													24	94					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100155213	100155213	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:100155213C>G	ENST00000395996.1	+	13	1774	c.1663C>G	c.(1663-1665)Caa>Gaa	p.Q555E	VPS13B_ENST00000355155.1_Missense_Mutation_p.Q555E|VPS13B_ENST00000358544.2_Missense_Mutation_p.Q555E|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q555E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	555					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCACAAATCAACAAGACTT	0.328000													8	46					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	26997038	26997038	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:26997038G>T	ENST00000382009.3	+	4	963	c.696G>T	c.(694-696)ttG>ttT	p.L232F	STIM2_ENST00000467011.1_Missense_Mutation_p.L145F|STIM2_ENST00000467087.1_Missense_Mutation_p.L145F|STIM2_ENST00000237364.5_Missense_Mutation_p.L232F|STIM2_ENST00000465503.1_Missense_Mutation_p.L145F|STIM2_ENST00000412829.2_Missense_Mutation_p.L232F	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	145					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTCAGTGGTTGATAGAGTTTG	0.368000													18	106					8.28177e-16	1.29067e-15	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160454099	160454099	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:160454099C>G	ENST00000356956.1	+	9	1319	c.1171C>G	c.(1171-1173)Caa>Gaa	p.Q391E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	391					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGATACCTCTCAAGTCAAAGC	0.388000													13	41					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704876	101704876	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:101704876C>A	ENST00000305352.6	+	2	711	c.336C>A	c.(334-336)ctC>ctA	p.L112L	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	112					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCTACAAGCTCACTCCCGCCC	0.547000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	91					0.00909568	0.00963781	1	1	0
CCDC91	55297	broad.mit.edu	37	12	28603157	28603157	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:28603157G>T	ENST00000545336.1	+	12	1245	c.826G>T	c.(826-828)Gct>Tct	p.A276S	CCDC91_ENST00000381256.1_Missense_Mutation_p.A240S|CCDC91_ENST00000306172.5_Missense_Mutation_p.A246S|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.A276S|CCDC91_ENST00000539107.1_Missense_Mutation_p.A240S			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	276	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATAAAGGAAGCTTTGATTCA	0.338000													11	65					0.010729	0.0113185	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113317058	113317058	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:113317058T>C	ENST00000297405.5	-	52	8402	c.8158A>G	c.(8158-8160)Aaa>Gaa	p.K2720E	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.K2680E|CSMD3_ENST00000352409.3_Missense_Mutation_p.K2650E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2720	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACTACTTTGGTTTTGTAT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	59					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683058	50683058	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:50683058A>G	ENST00000008391.3	+	2	497	c.269A>G	c.(268-270)tAc>tGc	p.Y90C		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	90							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCCGACGCCTACTCTCTGAAC	0.592000													22	88					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186076022	186076022	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:186076022G>A	ENST00000271588.4	+	70	11006	c.10777G>A	c.(10777-10779)Gat>Aat	p.D3593N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3593N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3593	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGGTGGAGGATACAGGAAG	0.338000													12	120					0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861694	34861694	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:34861694T>C	ENST00000314399.3	-	2	445	c.7A>G	c.(7-9)Aca>Gca	p.T3A	DNAJC28_ENST00000402202.1_Missense_Mutation_p.T3A|DNAJC28_ENST00000381947.3_Missense_Mutation_p.T3A	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	3							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						ACATACATTGTATTCATTATT	0.328000													10	70					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929506	24929506	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:24929506G>T	ENST00000405141.1	+	14	1878	c.1167G>T	c.(1165-1167)tcG>tcT	p.S389S	NCOA1_ENST00000288599.5_Silent_p.S389S|NCOA1_ENST00000348332.3_Silent_p.S389S|NCOA1_ENST00000407230.1_Silent_p.S238S|NCOA1_ENST00000406961.1_Silent_p.S389S|NCOA1_ENST00000395856.3_Silent_p.S389S|NCOA1_ENST00000538539.1_Silent_p.S389S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	389	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATCCCTCGGTCAATCCTA	0.468000			T	PAX3	alveolar rhadomyosarcoma								10	64					0.000673444	0.000764192	1	1	0
ROR1	4919	broad.mit.edu	37	1	64643225	64643225	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:64643225C>A	ENST00000371079.1	+	9	1876	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	501	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GGACCATGCTCAGCTGGTTGC	0.473000													32	285					6.05902e-23	9.75949e-23	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069056	9069056	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:9069056G>T	ENST00000397910.4	-	3	18593	c.18390C>A	c.(18388-18390)tcC>tcA	p.S6130S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6132	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATGTCTGGGGACTTTGTTG	0.507000													8	38					5.18039e-06	6.59572e-06	1	1	0
XAGE3	170626	broad.mit.edu	37	X	52893883	52893883	+	Silent	SNP	A	A	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:52893883A>C	ENST00000346279.3	-	4	304	c.234T>G	c.(232-234)acT>acG	p.T78T	XAGE3_ENST00000375491.3_Silent_p.T78T	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	78										kidney(1)|large_intestine(1)|lung(2)	4						ATTCACCCCCAGTCTTTGACT	0.423000													13	66					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61541455	61541455	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:61541455C>A	ENST00000278836.5	+	8	1228	c.1132C>A	c.(1132-1134)Cgc>Agc	p.R378S	MYRF_ENST00000265460.5_Missense_Mutation_p.R369S|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.R5S	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCTCACCTACCGCGTGGATGC	0.617000													5	41					0.014758	0.015333	1	1	0
WWC1	23286	broad.mit.edu	37	5	167850627	167850627	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:167850627A>G	ENST00000265293.4	+	11	1866	c.1364A>G	c.(1363-1365)gAc>gGc	p.D455G	WWC1_ENST00000521089.1_Missense_Mutation_p.D455G	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	455					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCAGCCTGGACTCCTCCACT	0.617000													18	111					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79737343	79737343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:79737343C>A	ENST00000372371.3	-	31	4203	c.4066G>T	c.(4066-4068)Gga>Tga	p.G1356*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1356					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGCCCGGTTCCAATGTTCATT	0.498000													22	106					1.96292e-10	2.82944e-10	1	1	0
FBN3	84467	broad.mit.edu	37	19	8152786	8152786	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:8152786C>A	ENST00000600128.1	-	53	6956	c.6542G>T	c.(6541-6543)tGc>tTc	p.C2181F	FBN3_ENST00000270509.2_Missense_Mutation_p.C2181F|FBN3_ENST00000601739.1_Missense_Mutation_p.C2181F			Q75N90	FBN3_HUMAN	fibrillin 3	2181	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTATTGTGGCAGCGGAAGGC	0.627000													12	84					3.07112e-06	3.94154e-06	1	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060543	35060543	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:35060543C>T	ENST00000373913.3	+	3	903	c.423C>T	c.(421-423)caC>caT	p.H141H	DLGAP4_ENST00000339266.5_Silent_p.H141H|DLGAP4_ENST00000401952.2_Silent_p.H141H|DLGAP4_ENST00000373907.2_Silent_p.H141H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	141					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATCCGCCACCTGGTCCACT	0.637000													12	76					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702730	120702730	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:120702730C>A	ENST00000527524.2	+	7	968	c.681C>A	c.(679-681)atC>atA	p.I227I	GRIK4_ENST00000438375.2_Silent_p.I227I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	227					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCCACACCATCCTCCTGAAGG	0.657000													17	74					8.00594e-06	1.01128e-05	1	1	0
SI	6476	broad.mit.edu	37	3	164776961	164776961	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:164776961T>C	ENST00000264382.3	-	11	1335	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	425	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTACCAAGATGATGACATAT	0.338000										HNSCC(35;0.089)			6	38					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755910	21755910	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:21755910G>A	ENST00000382254.1	-	14	2761	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	CDH12_ENST00000522262.1_Missense_Mutation_p.R519C|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.R559C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	559	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGCTGCCTGCGGCTGTATCCA	0.428000										HNSCC(59;0.17)			18	63					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969330	235969330	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:235969330C>T	ENST00000389794.3	-	6	3280	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	LYST_ENST00000536965.1_Missense_Mutation_p.E1036K|LYST_ENST00000389793.2_Missense_Mutation_p.E1036K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1036					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATAAATCTTCCTTCATAGTT	0.358000													7	96					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75823356	75823356	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:75823356T>A	ENST00000322507.8	-	50	8111	c.7802A>T	c.(7801-7803)gAc>gTc	p.D2601V	COL12A1_ENST00000345356.6_Missense_Mutation_p.D1437V|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2601V|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2601V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2601	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTAGTCTCTGTCTGTGATTTG	0.373000													11	77					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509157	228509157	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:228509157T>A	ENST00000570156.2	+	66	17560	c.17486T>A	c.(17485-17487)aTg>aAg	p.M5829K	OBSCN_ENST00000366709.4_Missense_Mutation_p.M1991K|OBSCN_ENST00000366707.4_Missense_Mutation_p.M2506K|OBSCN_ENST00000284548.11_Missense_Mutation_p.M4872K|OBSCN_ENST00000422127.1_Missense_Mutation_p.M4872K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4872	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATCCCTCAATGGACAAGGCA	0.597000													3	12					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8737757	8737757	+	Missense_Mutation	SNP	G	G	T	rs148288081		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:8737757G>T	ENST00000378641.3	+	24	3063	c.2588G>T	c.(2587-2589)gGg>gTg	p.G863V	PLCB1_ENST00000338037.6_Missense_Mutation_p.G863V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G863V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	863					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGAAAATGGGGTGAATCAC	0.493000													7	74					5.18039e-06	6.59572e-06	1	1	0
CST4	1472	broad.mit.edu	37	20	23667808	23667808	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:23667808C>T	ENST00000217423.3	-	2	329	c.259G>A	c.(259-261)Gta>Ata	p.V87I		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	87						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCACCTCTACGTCGAAGAAG	0.552000													36	134					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96651579	96651579	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:96651579T>C	ENST00000222598.4	-	2	931	c.458A>G	c.(457-459)cAg>cGg	p.Q153R	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.Q153R	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	153					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AAACCTTCTCTGTAATGCGGC	0.527000													22	113					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86014178	86014178	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:86014178G>T	ENST00000359452.4	+	5	659	c.621G>T	c.(619-621)ctG>ctT	p.L207L	RGR_ENST00000358110.5_Silent_p.L203L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	203					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AGCAGAAACTGGGGAAGAGTG	0.522000													10	58					3.86212e-05	4.65783e-05	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221392	118221392	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:118221392C>A	ENST00000402510.2	-	11	3800	c.3801G>T	c.(3799-3801)agG>agT	p.R1267S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1267										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTCTTCAGGCCTCCCCAAGG	0.488000													5	38					1.23904e-05	1.53283e-05	1	1	0
CCDC73	493860	broad.mit.edu	37	11	32635143	32635143	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:32635143G>A	ENST00000335185.5	-	16	2764	c.2721C>T	c.(2719-2721)ccC>ccT	p.P907P		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	907										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACCAAGGACCGGGGTCTGAAA	0.408000													22	157					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68265157	68265157	+	Silent	SNP	T	T	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:68265157T>G	ENST00000473183.2	-	12	2173	c.1635A>C	c.(1633-1635)acA>acC	p.T545T	ESRP2_ENST00000565858.1_Silent_p.T555T			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	555	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCATCTCCTCTGTGGAACAGG	0.612000													5	57					0	0	1	0	0
ZFP1	162239	broad.mit.edu	37	16	75204189	75204189	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:75204189G>T	ENST00000393430.2	+	4	1305	c.1181G>T	c.(1180-1182)cGa>cTa	p.R394L	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.R394L|ZFP1_ENST00000332307.4_Missense_Mutation_p.R361L|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGGAAGTCCCGACTCAGTGTC	0.498000													7	58					0.00307968	0.00339047	1	1	0
TRGV3	6976	broad.mit.edu	37	7	38398336	38398336	+	RNA	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:38398336G>T	ENST00000390346.2	-	0	313																											ATTTGTTACAGTAAGATCGCA	0.507000													24	90					9.95505e-16	1.54642e-15	1	1	0
RERG	85004	broad.mit.edu	37	12	15262139	15262139	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:15262139G>T	ENST00000256953.2	-	5	841	c.505C>A	c.(505-507)Cgc>Agc	p.R169S	RERG_ENST00000536465.1_Missense_Mutation_p.R169S|RERG_ENST00000538313.1_Missense_Mutation_p.R169S|RERG_ENST00000546331.1_Missense_Mutation_p.R150S	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	169	Poly-Arg.				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCCTCCGGCGACGCACCTCT	0.527000													39	119					4.62619e-21	7.4019e-21	1	1	0
CERKL	375298	broad.mit.edu	37	2	182438565	182438565	+	Silent	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:182438565T>C	ENST00000410087.3	-	3	628	c.528A>G	c.(526-528)caA>caG	p.Q176Q	CERKL_ENST00000374969.2_Intron|CERKL_ENST00000374970.2_Silent_p.Q176Q|CERKL_ENST00000339098.5_Silent_p.Q176Q|CERKL_ENST00000409440.3_Intron|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	176	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTTGTGACTTTGGGGGTTAA	0.338000													9	48					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409891	140409891	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:140409891G>T	ENST00000286349.3	+	4	2133	c.1942G>T	c.(1942-1944)Gta>Tta	p.V648L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	648	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCTAACAACGTACAAATGGA	0.428000													12	118					2.27111e-07	3.03658e-07	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39505941	39505941	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:39505941A>T	ENST00000265707.5	+	12	1170	c.1125A>T	c.(1123-1125)aaA>aaT	p.K375N	ADAM18_ENST00000379866.1_Missense_Mutation_p.K351N|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	375	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGAGACTAAATGCCTTCAGA	0.343000													26	43					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24870414	24870414	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:24870414G>T	ENST00000313367.2	-	16	2308	c.1857C>A	c.(1855-1857)gaC>gaA	p.D619E	OSBPL3_ENST00000431825.2_Missense_Mutation_p.D552E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D588E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.D583E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D583E|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D552E|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D588E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	619					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGAAGCCCTTGTCCTCCCGAA	0.428000													36	201					1.36161e-19	2.15701e-19	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30715383	30715383	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:30715383A>T	ENST00000262518.4	+	4	439		c.e4-1		SRCAP_ENST00000395059.2_Splice_Site|SRCAP_ENST00000344771.4_Splice_Site	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein						interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTCTTTTCTAGATGGTGTCG	0.483000													15	78					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285665	130285665	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:130285665A>T	ENST00000358511.6	+	4	1433	c.1402A>T	c.(1402-1404)Att>Ttt	p.I468F	COL6A6_ENST00000453409.2_Missense_Mutation_p.I468F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	468	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATGTTCAACATTGCTCCCCA	0.488000													22	90					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339108	13339108	+	RNA	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:13339108C>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						CTATTCATTCCTCCTTAGGCT	0.423000													4	51					0.184627	0.186964	1	1	0
TMEM168	64418	broad.mit.edu	37	7	112415279	112415279	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:112415279C>A	ENST00000312814.5	-	3	1783	c.1223G>T	c.(1222-1224)gGa>gTa	p.G408V	TMEM168_ENST00000454074.1_Missense_Mutation_p.G408V|TMEM168_ENST00000480969.1_5'UTR	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	408						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGATGTTCCTCCTAAACAGTT	0.373000													9	60					3.86212e-05	4.65783e-05	1	1	0
WWC1	23286	broad.mit.edu	37	5	167850626	167850626	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:167850626G>T	ENST00000265293.4	+	11	1865	c.1363G>T	c.(1363-1365)Gac>Tac	p.D455Y	WWC1_ENST00000521089.1_Missense_Mutation_p.D455Y	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	455					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATCCAGCCTGGACTCCTCCAC	0.617000													18	115					3.32936e-07	4.41462e-07	1	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927307	92927307	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:92927307C>T	ENST00000373079.3	-	1	1260	c.997G>A	c.(997-999)Gat>Aat	p.D333N	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	333					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATGGGCTCATCATACTTCTGA	0.428000													19	58					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226286	50226286	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:50226286C>G	ENST00000284509.6	-	15	1522	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D461H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	461					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTTTGGGATCACCCATTTTA	0.418000													14	78					0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103841564	103841564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:103841564C>A	ENST00000337198.5	-	11	2334	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E391*	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	391					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			GCAGATGGTTCATGGAAAGAA	0.383000													27	118					2.41591e-17	3.78966e-17	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140175016	140175016	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:140175016G>T	ENST00000526136.1	+	1	467	c.467G>T	c.(466-468)gGa>gTa	p.G156V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.G156V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G156V|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.G156A(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTAGAGGGAGCATCTGAT	0.438000													12	100					0.010729	0.0113185	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72205110	72205110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:72205110C>T	ENST00000340595.3	+	1	341	c.145C>T	c.(145-147)Cga>Tga	p.R49*	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.R93*|SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.R93*|SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.R49*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.R93*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	93				T -> A (in Ref. 6; BAH58226).		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAACGCATCCGATTCATCTT	0.557000													13	205					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43173743	43173743	+	RNA	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:43173743A>G	ENST00000522175.2	+	0	1029							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATTTCCTAACACAGAGATTGA	0.393000													20	107					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152788	8152788	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:8152788G>T	ENST00000600128.1	-	53	6954	c.6540C>A	c.(6538-6540)cgC>cgA	p.R2180R	FBN3_ENST00000270509.2_Silent_p.R2180R|FBN3_ENST00000601739.1_Silent_p.R2180R			Q75N90	FBN3_HUMAN	fibrillin 3	2180	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TATTGTGGCAGCGGAAGGCAC	0.632000													12	80					3.07112e-06	3.94154e-06	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80835392	80835392	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:80835392C>A	ENST00000466387.1	+	21	3103	c.2379C>A	c.(2377-2379)agC>agA	p.S793R	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S793R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	793					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATATCTGCAGCAAGGTGAAGG	0.443000													7	70					1.12685e-05	1.4049e-05	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132169702	132169702	+	Missense_Mutation	SNP	G	G	T	rs112214523	byFrequency	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:132169702G>T	ENST00000378539.5	-	5	1818	c.1442C>A	c.(1441-1443)gCg>gAg	p.A481E	PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane		p.A481V(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCAATGTTCGCCCCAGGTGG	0.483000													13	79					9.31168e-06	1.16396e-05	1	1	0
GKN2	200504	broad.mit.edu	37	2	69172517	69172517	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:69172517C>A	ENST00000328895.4	-	6	646	c.538G>T	c.(538-540)Gca>Tca	p.A180S	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	180						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TGAATGTCTGCACAGATTGAA	0.388000													17	126					5.35267e-07	7.03912e-07	1	1	0
SMC3	9126	broad.mit.edu	37	10	112335124	112335124	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:112335124G>T	ENST00000361804.4	+	4	287	c.161G>T	c.(160-162)aGt>aTt	p.S54I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	54					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GATGAGTTTAGTCATCTTCGT	0.308000													6	59					0.000157383	0.000185612	1	1	0
MIR129-2	406918	broad.mit.edu	37	11	43603032	43603032	+	RNA	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:43603032C>A	ENST00000362207.1	+	0	89					NR_029697.1																						TTGCGGAGGGCGCACTCGTCG	0.592000													3	13					0.115264	0.117466	1	1	0
C6	729	broad.mit.edu	37	5	41149434	41149434	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:41149434T>A	ENST00000263413.3	-	17	2796	c.2532A>T	c.(2530-2532)gaA>gaT	p.E844D	C6_ENST00000337836.5_Missense_Mutation_p.E844D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	844	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAGACCCCATTCTAACTGGC	0.423000													19	239					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531081	92531081	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:92531081G>C	ENST00000298047.6	+	9	4919	c.4902G>C	c.(4900-4902)atG>atC	p.M1634I	FAT3_ENST00000409404.2_Missense_Mutation_p.M1634I|FAT3_ENST00000525166.1_Missense_Mutation_p.M1484I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1634	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACGACGATGGGTCAGTTTG	0.463000										TCGA Ovarian(4;0.039)			22	107					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49084716	49084716	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:49084716G>A	ENST00000376265.2	-	7	1072	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	CACNA1F_ENST00000376251.1_Silent_p.Y272Y|CACNA1F_ENST00000323022.5_Silent_p.Y337Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	337					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACCTCACCCAGTAGAGCACAT	0.572000													5	26					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	RNA	SNP	G	G	A	rs7635172	by1000genomes	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395																											CAAACTCGCTGTTGGACCTGG	0.597000													3	18					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38480702	38480702	+	Translation_Start_Site	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:38480702G>A	ENST00000540756.1	+	0	95				TTC3_ENST00000355666.1_Missense_Mutation_p.G286S|TTC3_ENST00000354749.2_Missense_Mutation_p.G286S|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399017.2_Missense_Mutation_p.G286S			P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAATGCACTCGGTGATGGAAA	0.308000													3	38					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745780	77745780	+	Silent	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:77745780G>C	ENST00000409088.3	-	3	1629	c.1215C>G	c.(1213-1215)tcC>tcG	p.S405S	LRRTM4_ENST00000409093.1_Silent_p.S405S|LRRTM4_ENST00000409282.1_Silent_p.S406S|LRRTM4_ENST00000409884.1_Silent_p.S405S|LRRTM4_ENST00000409911.1_Silent_p.S406S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	405						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAAACCCTGGGGAAGGGCTTG	0.498000													12	51					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93754312	93754312	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:93754312A>G	ENST00000265990.6	+	23	3528	c.3220A>G	c.(3220-3222)Aag>Gag	p.K1074E		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1074					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCTCCTGGATAAGGGAGATAG	0.368000													5	35					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084092	17084092	+	RNA	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:17084092C>G	ENST00000455405.2	-	0	620																											CTTGATGTTACACTCCTGGTT	0.597000													8	258					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157554	26157554	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:26157554G>C	ENST00000325250.1	+	2	639	c.452G>C	c.(451-453)aGa>aCa	p.R151T		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	151	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATCCTCAAGAGAGCCTCTGAG	0.418000													5	16					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090953	34090953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:34090953C>T	ENST00000397527.1	+	30	5476	c.4756C>T	c.(4756-4758)Cag>Tag	p.Q1586*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q1530*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1586	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGGGAAACCCAGAGAGTGGC	0.557000													4	34					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85606379	85606379	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:85606379C>A	ENST00000280245.4	+	6	1067	c.555C>A	c.(553-555)atC>atA	p.I185I	CCDC83_ENST00000376067.1_Silent_p.I86I|CCDC83_ENST00000342404.3_Silent_p.I185I|CCDC83_ENST00000529676.2_3'UTR	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	185										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAAAATAATCAAGGAAACTT	0.279000													9	41					3.09899e-07	4.12053e-07	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250567	18250567	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:18250567A>G	ENST00000377369.2	+	3	592	c.319A>G	c.(319-321)Aga>Gga	p.R107G	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.R107G|SLC39A12_ENST00000377374.4_Missense_Mutation_p.R107G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	107					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGATCAGCTTAGAGAAGAAGT	0.353000													8	66					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967775	1967775	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:1967775T>C	ENST00000382722.5	-	20	2338	c.1976A>G	c.(1975-1977)tAc>tGc	p.Y659C	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.Y595C|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.Y634C|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.Y595C|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.Y659C|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.Y520C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	659						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGAAGGATGTATTCTCCGTG	0.592000													6	40					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142772595	142772595	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:142772595C>T	ENST00000397933.2	+	25	2788	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	U2SURP_ENST00000473835.2_Silent_p.D911D|U2SURP_ENST00000493598.2_Silent_p.D910D			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	911					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GCTCCAAAGACAAGAAGGAAA	0.323000													3	19					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766948	88766948	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:88766948G>A	ENST00000497649.2	+	6	1234	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	MEPE_ENST00000560249.1_Missense_Mutation_p.E197K|MEPE_ENST00000395102.4_Missense_Mutation_p.E341K|MEPE_ENST00000361056.3_Missense_Mutation_p.E310K|MEPE_ENST00000424957.3_Missense_Mutation_p.E310K|MEPE_ENST00000540395.1_Missense_Mutation_p.E197K|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	310					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCCAGAGAGAGAAGAAAATGG	0.448000													9	65					0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991166	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:2991166T>A	ENST00000380542.4	-	7	543		c.e7-2		NAP1L4_ENST00000526115.1_Splice_Site	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418000													3	47					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283847	130283847	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:130283847G>A	ENST00000358511.6	+	3	702	c.671G>A	c.(670-672)gGc>gAc	p.G224D	COL6A6_ENST00000453409.2_Missense_Mutation_p.G224D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	224	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTTGCCAAGGCCCTTCTATG	0.423000													24	105					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383582	48383582	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:48383582G>T	ENST00000380518.3	-	17	1194	c.1030C>A	c.(1030-1032)Cga>Aga	p.R344R	COL2A1_ENST00000337299.6_Silent_p.R275R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	344	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGTTGCCTCGGGCACCCTGT	0.587000													19	104					5.03518e-11	7.39109e-11	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198700799	198700799	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:198700799G>C	ENST00000367376.2	+	18	2083	c.1912G>C	c.(1912-1914)Gaa>Caa	p.E638Q	PTPRC_ENST00000348564.6_Missense_Mutation_p.E479Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.E590Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.E640Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.E477Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	638					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATTTTGTTGGAAACTTATAA	0.343000													14	77					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427574	197427574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:197427574C>A	ENST00000273582.5	-	7	1536	c.991G>T	c.(991-993)Gag>Tag	p.E331*	KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.E391*|KIAA0226_ENST00000449205.1_Nonsense_Mutation_p.E391*|KIAA0226_ENST00000296343.5_Nonsense_Mutation_p.E391*	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	391	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTCTGCCCCTCTGAGAAGCTG	0.587000													5	88					0.014758	0.015333	1	1	0
CCDC147	159686	broad.mit.edu	37	10	106160477	106160477	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:106160477C>T	ENST00000369704.3	+	13	1989	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	619										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCAGCTTGTTCGGCGCAATGA	0.498000													5	92					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156157	151156157	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:151156157G>T	ENST00000282466.3	-	6	6191	c.6192C>A	c.(6190-6192)ggC>ggA	p.G2064G	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2064	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCACTGGGGAGCCGGAAGCTT	0.463000													16	137					1.3612e-06	1.77548e-06	1	1	0
GPRC6A	222545	broad.mit.edu	37	6	117128109	117128109	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:117128109G>T	ENST00000310357.3	-	3	780	c.759C>A	c.(757-759)acC>acA	p.T253T	GPRC6A_ENST00000530250.1_Silent_p.T253T|GPRC6A_ENST00000368549.3_Silent_p.T253T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	253					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACTTCAATGGTATTATCTG	0.378000													13	71					0.00244969	0.0027156	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142499645	142499645	+	RNA	SNP	G	G	A	rs1126990		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:142499645G>A	ENST00000466254.1	+	0	405																											CTTCACCTCCGGTAAGTGAGT	0.507000													60	442					0	0	1	0	0
ICT1	3396	broad.mit.edu	37	17	73015848	73015848	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:73015848A>G	ENST00000301585.5	+	3	290	c.277A>G	c.(277-279)Aac>Gac	p.N93D		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	93					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GCAGAATGTGAACAAAGGTAC	0.438000													4	35					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095200	107095200	+	RNA	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:107095200T>A	ENST00000390630.2	-	0	380																											TTCTTGGACGTGTCTACTGAT	0.552000													13	109					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4167059	4167059	+	Silent	SNP	G	G	A	rs144535926		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:4167059G>A	ENST00000404826.2	+	26	4009	c.3870G>A	c.(3868-3870)tcG>tcA	p.S1290S	SDK1_ENST00000389531.3_Silent_p.S1290S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1290	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGTCAGCTCGACCCAGATTT	0.507000													20	111					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669713	99669713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:99669713G>A	ENST00000303915.6	-	5	1361	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Nonsense_Mutation_p.R132*|ZNF3_ENST00000299667.4_Nonsense_Mutation_p.R132*			P17036	ZNF3_HUMAN	zinc finger protein 3	132					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTGACTTCTCGTTCATAGGCT	0.438000													23	88					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424045	21424045	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:21424045G>C	ENST00000304625.2	+	2	205	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	39				ET -> QE (in Ref. 10; AA sequence).	chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.E39Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCAATGGTTTGAAACCCAGCA	0.458000													19	63					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431211	103431211	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:103431211C>A	ENST00000412401.2	+	5	679	c.474C>A	c.(472-474)atC>atA	p.I158I	TMEM182_ENST00000409173.1_Silent_p.I115I|TMEM182_ENST00000409528.1_Silent_p.I62I|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	158						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCTCAGGCATCCTATTTTCAT	0.448000													7	15					0.0381472	0.0393778	1	1	0
FANCI	55215	broad.mit.edu	37	15	89834929	89834929	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:89834929C>T	ENST00000310775.7	+	20	2062	c.1976C>T	c.(1975-1977)tCt>tTt	p.S659F	FANCI_ENST00000300027.8_Missense_Mutation_p.S659F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	659					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATAAGATCTCTCTACAAGAA	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				22	104					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235454	127235454	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:127235454G>T	ENST00000265825.5	+	2	457	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	80						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGAGTGTGATGGCACCGTGTG	0.582000													14	67					4.36969e-10	6.24242e-10	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911201	101911201	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:101911201A>T	ENST00000537097.1	+	6	3173	c.2360A>T	c.(2359-2361)gAa>gTa	p.E787V	GPRASP1_ENST00000415986.1_Missense_Mutation_p.E787V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E787V|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E787V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	787	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGGCTGGAGAAGAGGACAGA	0.512000													23	130					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606337	55606337	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:55606337A>G	ENST00000378396.1	+	1	110	c.110A>G	c.(109-111)tAc>tGc	p.Y37C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGGCAGTCTACGGCTTCAGT	0.433000													25	128					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34117964	34117964	+	Silent	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:34117964C>G	ENST00000373381.4	-	28	4721	c.4545G>C	c.(4543-4545)gtG>gtC	p.V1515V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.V388V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1475	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGAGACGGTCACTTTCCAGT	0.572000													24	99					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526685	106526685	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:106526685T>C	ENST00000359195.3	+	10	3288	c.2978T>C	c.(2977-2979)tTt>tCt	p.F993S	PIK3CG_ENST00000440650.2_Missense_Mutation_p.F993S|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F993S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	993	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GACTTCCTCTTTGTGATGGGA	0.443000													8	47					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172960	5172960	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:5172960G>T	ENST00000380367.1	-	2	1057	c.640C>A	c.(640-642)Ctc>Atc	p.L214I	OR52A1_ENST00000328942.1_Missense_Mutation_p.L214I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	214					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAATGTGAGGTCAAATCCT	0.413000													17	91					1.99824e-07	2.6867e-07	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541283	55541283	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:55541283C>A	ENST00000361760.1	+	1	370	c.370C>A	c.(370-372)Cgt>Agt	p.R124S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	124			R -> H (in dbSNP:rs11230983).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTTATGACCGTTTTGTGGC	0.433000													34	197					9.78485e-24	1.58139e-23	1	1	0
ZC3H6	376940	broad.mit.edu	37	2	113089679	113089679	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:113089679C>A	ENST00000409871.1	+	12	3585	c.3184C>A	c.(3184-3186)Cta>Ata	p.L1062I	ZC3H6_ENST00000343936.4_Missense_Mutation_p.L1062I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1062							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CACATCAGAGCTAGCAACAGC	0.448000													6	30					0.00198382	0.00220424	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79387397	79387397	+	Silent	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:79387397T>A	ENST00000370742.3	-	9	1221	c.1158A>T	c.(1156-1158)tcA>tcT	p.S386S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	386	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACAGCCCTCTGAAGACCAGC	0.433000													4	73					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													3	21					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950700	27950700	+	Translation_Start_Site	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:27950700C>T	ENST00000379992.2	-	0	419				LINGO2_ENST00000308675.3_De_novo_Start_OutOfFrame	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2							integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACCTTGGTCACGGGTCTGCAT	0.488000													3	19					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102372515	102372515	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:102372515C>A	ENST00000369138.1	+	12	2278	c.1788C>A	c.(1786-1788)aaC>aaA	p.N596K	GRIK2_ENST00000369134.4_Missense_Mutation_p.N547K|GRIK2_ENST00000421544.1_Missense_Mutation_p.N596K|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000318991.6_Missense_Mutation_p.N596K|GRIK2_ENST00000413795.1_Missense_Mutation_p.N596K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	596					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACCCTTGCAACCCTGACTCAG	0.403000													10	61					0.000442599	0.000507035	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28264625	28264625	+	Missense_Mutation	SNP	G	G	T	rs151300360		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:28264625G>T	ENST00000405948.2	+	5	1095	c.675G>T	c.(673-675)caG>caT	p.Q225H	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q225H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	225					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAACAGCCCAGGCCGTTGCTG	0.468000													14	72					4.3838e-07	5.79676e-07	1	1	0
TAF9B	51616	broad.mit.edu	37	X	77387162	77387162	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:77387162T>A	ENST00000341864.5	-	7	795	c.701A>T	c.(700-702)gAa>gTa	p.E234V		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	234					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TGGGTTTGCTTCATTGGCTGT	0.353000													18	118					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338516	103338516	+	Silent	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:103338516G>A	ENST00000424685.2	-	10	1086	c.927C>T	c.(925-927)atC>atT	p.I309I	RELN_ENST00000343529.5_Silent_p.I309I|RELN_ENST00000428762.1_Silent_p.I309I			P78509	RELN_HUMAN	reelin	309					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATATGGATGATTGTGCTGA	0.433000													37	161					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197115399	197115399	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:197115399G>T	ENST00000367409.4	-	1	425	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	ASPM_ENST00000294732.7_Missense_Mutation_p.L57M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	57					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGGCTCCCAGGAGAACGTCC	0.657000													53	171					4.32865e-36	7.04323e-36	1	1	0
EP400	57634	broad.mit.edu	37	12	132514300	132514300	+	Silent	SNP	G	G	A	rs143343739	byFrequency	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:132514300G>A	ENST00000333577.4	+	29	5653	c.5544G>A	c.(5542-5544)ccG>ccA	p.P1848P	EP400_ENST00000389562.2_Silent_p.P1811P|EP400_ENST00000389561.2_Silent_p.P1812P|EP400_ENST00000330386.6_Silent_p.P1731P|EP400_ENST00000332482.4_Silent_p.P1775P			Q96L91	EP400_HUMAN	E1A binding protein p400	1848					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TACGGGTGCCGCGGCCGCCAC	0.642000													9	54					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267490	48267490	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:48267490T>A	ENST00000302329.3	+	1	883	c.835T>A	c.(835-837)Tac>Aac	p.Y279N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCTGTCATCTACTCTCTGAG	0.463000													18	95					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127789172	127789172	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:127789172G>C	ENST00000336505.5	-	6	489	c.431C>G	c.(430-432)aCc>aGc	p.T144S	SCAI_ENST00000373549.4_Missense_Mutation_p.T167S	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	144	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				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			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						CAGATAGCTGGTTTCCGATGT	0.348000													5	40					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38907492	38907492	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:38907492C>A	ENST00000312150.4	-	4	816	c.756G>T	c.(754-756)ctG>ctT	p.L252L		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	252	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCATGTTGTTCAGCAGAACTG	0.577000													5	72					0.014758	0.015333	1	1	0
CD163	9332	broad.mit.edu	37	12	7656274	7656274	+	Silent	SNP	T	T	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:7656274T>G	ENST00000359156.4	-	1	215	c.13A>C	c.(13-15)Aga>Cga	p.R5R	CD163_ENST00000396620.3_Silent_p.R5R|CD163_ENST00000432237.2_Silent_p.R5R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	5					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCACCATTCTGAGTTTGCTC	0.323000													7	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463668	179463668	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:179463668C>A	ENST00000589042.1	-	291	56993	c.56769G>T	c.(56767-56769)atG>atT	p.M18923I	TTN_ENST00000342175.6_Missense_Mutation_p.M10050I|TTN_ENST00000342992.6_Missense_Mutation_p.M16355I|TTN_ENST00000359218.5_Missense_Mutation_p.M9983I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M17282I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M9858I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17282	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTCTTTCATTTCCAGCC	0.448000													14	56					1.5842e-08	2.21696e-08	1	1	0
CEP85	64793	broad.mit.edu	37	1	26603736	26603736	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:26603736G>A	ENST00000252992.4	+	14	2372	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.M696I	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	747						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGACCACCATGTCAGACAGAT	0.517000													11	107					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759050	121759050	+	Silent	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:121759050A>T	ENST00000261367.7	+	6	2187	c.759A>T	c.(757-759)ccA>ccT	p.P253P	SNCAIP_ENST00000379536.2_Silent_p.P206P|SNCAIP_ENST00000503116.2_Silent_p.P253P|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261368.8_Silent_p.P206P|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Silent_p.P253P			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	206					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACATGGCACCATTTTGTGTTC	0.468000													10	135					0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145699818	145699818	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:145699818G>T	ENST00000377317.4	-	3	1479	c.901C>A	c.(901-903)Ccc>Acc	p.P301T		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	301	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGACACTGGGGACAGGAGGTG	0.652000													14	85					2.23348e-06	2.88968e-06	1	1	0
RAB37	326624	broad.mit.edu	37	17	72741179	72741179	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:72741179C>A	ENST00000340415.3	+	8	1510	c.501C>A	c.(499-501)gcC>gcA	p.A167A	RAB37_ENST00000392614.4_Silent_p.A179A|RAB37_ENST00000392610.1_Silent_p.A174A|RAB37_ENST00000392615.5_Silent_p.A142A|RAB37_ENST00000392612.3_Silent_p.A137A|RAB37_ENST00000528438.1_Silent_p.A147A|RAB37_ENST00000402449.4_Silent_p.A167A|RAB37_ENST00000392613.5_Silent_p.A174A	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	174					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGACCAGCGCCAAGACTGGCA	0.632000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	61					0.00116845	0.00131656	1	1	0
SEC31A	22872	broad.mit.edu	37	4	83799972	83799972	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:83799972T>A	ENST00000432794.1	-	4	476	c.313A>T	c.(313-315)Aaa>Taa	p.K105*	SEC31A_ENST00000348405.4_Nonsense_Mutation_p.K105*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.K105*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.K105*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.K100*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.K105*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.K105*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.K105*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.K105*			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	105					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GCTATAATTTTAGAAGGATCA	0.408000													12	56					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153582539	153582539	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:153582539T>C	ENST00000422373.1	-	33	5761	c.5513A>G	c.(5512-5514)tAt>tGt	p.Y1838C	FLNA_ENST00000369850.3_Missense_Mutation_p.Y1846C|FLNA_ENST00000360319.4_Missense_Mutation_p.Y1838C|FLNA_ENST00000369856.3_Missense_Mutation_p.Y37C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1806C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1846					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGTTGTCATAGCGGATGTC	0.642000											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	48					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41423905	41423905	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:41423905G>C	ENST00000400454.1	-	30	5642	c.5165C>G	c.(5164-5166)tCa>tGa	p.S1722*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1722					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGAGCGTCTGAAACATCCAC	0.488000													22	124					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007848	6007848	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:6007848C>A	ENST00000332249.4	-	1	367	c.313G>T	c.(313-315)Gtt>Ttt	p.V105F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCATGAACCAGGAGCACT	0.542000													11	24					4.68919e-08	6.37623e-08	1	1	0
KIF6	221458	broad.mit.edu	37	6	39552729	39552729	+	Missense_Mutation	SNP	C	C	G	rs149838047	by1000genomes	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:39552729C>G	ENST00000287152.7	-	9	1116	c.1022G>C	c.(1021-1023)cGa>cCa	p.R341P	KIF6_ENST00000373216.3_Missense_Mutation_p.R341P|KIF6_ENST00000373213.4_Missense_Mutation_p.R180P|KIF6_ENST00000538893.1_Missense_Mutation_p.R341P|KIF6_ENST00000373215.3_Missense_Mutation_p.R341P	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAGTGCCACTCGCTGTGCAAA	0.289000													24	81					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628380	134628380	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:134628380T>C	ENST00000368586.5	-	51	7256	c.7156A>G	c.(7156-7158)Aaa>Gaa	p.K2386E	TTC40_ENST00000263170.5_Missense_Mutation_p.K547E	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	547										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTCTCTTTTTGGGGTCTCTG	0.612000													8	156					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820410	35820410	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:35820410G>C	ENST00000399989.1	+	2	376	c.97G>C	c.(97-99)Gct>Cct	p.A33P	MAGEB16_ENST00000399985.1_Missense_Mutation_p.A33P|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A33P|MAGEB16_ENST00000399987.1_Missense_Mutation_p.A33P|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A65P	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	33										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGTCTCCAAGGCTCTGGAGAA	0.552000													8	37					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106819105	106819105	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr4:106819105G>T	ENST00000379987.2	+	2	335	c.119G>T	c.(118-120)gGg>gTg	p.G40V	NPNT_ENST00000305572.8_Missense_Mutation_p.G40V|NPNT_ENST00000506666.1_Missense_Mutation_p.G40V|NPNT_ENST00000453617.2_Missense_Mutation_p.G40V|NPNT_ENST00000427316.2_Missense_Mutation_p.G40V|NPNT_ENST00000514622.1_Missense_Mutation_p.G40V	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	40					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CGTTATGGTGGGAGGATTGAC	0.493000													6	39					0.00198382	0.00220424	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48369267	48369267	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:48369267C>T	ENST00000380518.3	-	51	3883	c.3719G>A	c.(3718-3720)cGg>cAg	p.R1240Q	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R1171Q	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1240	Nonhelical region (C-terminal).				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGGTCGGCCCGCATGTACTG	0.662000													17	67					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111642316	111642316	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:111642316C>A	ENST00000369680.4	-	10	1034	c.786G>T	c.(784-786)agG>agT	p.R262S	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R191S|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.R305S|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R305S	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	262					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GCACCTGGATCCTGTATTCGG	0.572000													43	92					2.00842e-17	3.16079e-17	1	1	0
OR56B1	387748	broad.mit.edu	37	11	5757857	5757857	+	Silent	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:5757857T>A	ENST00000317121.3	+	1	177	c.111T>A	c.(109-111)tcT>tcA	p.S37S	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACTGGCTATCTCTGCCCCTGG	0.493000													7	58					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117398	20117398	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:20117398T>C	ENST00000397165.2	-	4	1073	c.913A>G	c.(913-915)Aca>Gca	p.T305A	ZNF682_ENST00000595736.1_Missense_Mutation_p.T229A|ZNF682_ENST00000597972.1_Missense_Mutation_p.T311A|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.T273A|ZNF682_ENST00000358523.5_Missense_Mutation_p.T273A	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTGTGAATTGTCTTATGTTTG	0.403000													19	67					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525586	150525586	+	Silent	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:150525586C>A	ENST00000271643.4	+	5	527	c.291C>A	c.(289-291)ccC>ccA	p.P97P	ADAMTSL4_ENST00000369041.5_Silent_p.P97P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.P97P|ADAMTSL4_ENST00000369039.5_Silent_p.P97P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	97					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCTCCTCCCCCGGGGCCAGG	0.672000													17	55					3.45872e-05	4.22439e-05	1	1	0
PPP2CB	5516	broad.mit.edu	37	8	30657229	30657229	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:30657229G>A	ENST00000221138.4	-	2	595	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'UTR	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	49					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ACAGGGCAACGAACCTCTTGC	0.328000													20	96					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171254514	171254514	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:171254514G>A	ENST00000354841.4	+	8	1561	c.1430G>A	c.(1429-1431)gGc>gAc	p.G477D	FMO1_ENST00000367750.3_Missense_Mutation_p.G477D|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.G414D			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	477					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGCTTGACTGGCCCAGGAAAA	0.512000													16	55					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49197488	49197488	+	Silent	SNP	T	T	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr11:49197488T>A	ENST00000340334.7	-	9	1265	c.897A>T	c.(895-897)ccA>ccT	p.P299P	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P314P|FOLH1_ENST00000356696.3_Silent_p.P314P|FOLH1_ENST00000343844.4_Silent_p.P6P|FOLH1_ENST00000533034.1_Silent_p.P299P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	314	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGCTATCTGGTGGTGCTGAGC	0.363000													13	72					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87439906	87439906	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:87439906T>C	ENST00000517970.1	+	11	1499	c.1192T>C	c.(1192-1194)Tat>Cat	p.Y398H	WWP1_ENST00000349423.2_Missense_Mutation_p.Y180H|WWP1_ENST00000341922.2_Missense_Mutation_p.Y268H|WWP1_ENST00000265428.4_Missense_Mutation_p.Y398H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	398	WW 2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TAGAAGAGTTTATTATGTGGA	0.373000													24	105					0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34707908	34707908	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:34707908G>C	ENST00000270139.3	+	2	307	c.155G>C	c.(154-156)aGc>aCc	p.S52T	IFNAR1_ENST00000493503.1_3'UTR|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S52T|IFNAR1_ENST00000416947.2_5'UTR	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	52					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGGAACAGGAGCGATGAGTCT	0.348000													19	68					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131254157	131254157	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:131254157A>T	ENST00000512055.1	-	20	3682	c.1556T>A	c.(1555-1557)cTg>cAg	p.L519Q	CPNE4_ENST00000429747.1_Missense_Mutation_p.L519Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.L537Q|CPNE4_ENST00000511604.1_Missense_Mutation_p.L519Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.L537Q|CPNE4_ENST00000503204.1_5'UTR			Q96A23	CPNE4_HUMAN	copine IV	519										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTCTTTGCCAGGGCAGCTGG	0.453000													8	85					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11406632	11406632	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:11406632G>A	ENST00000259089.4	+	5	960		c.e5+1		BLK_ENST00000529894.1_Splice_Site	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase						intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AAATGGAAAGGTAGGTGGGCA	0.602000													3	6					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683728	50683728	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr18:50683728A>T	ENST00000442544.2	+	8	1880	c.1264A>T	c.(1264-1266)Atc>Ttc	p.I422F	DCC_ENST00000412726.1_Missense_Mutation_p.I270F|DCC_ENST00000581580.1_Missense_Mutation_p.I77F|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	422					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTTAGCTATCCCAAGCTC	0.547000													20	173					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476863	20476863	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:20476863G>T	ENST00000573854.1	+	3	316	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A68S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A68S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A68S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A68S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	68					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCAAGCCCAGCCCTGTGGTG	0.532000													6	59					0.0293803	0.0303935	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25326336	25326336	+	RNA	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:25326336G>A	ENST00000546682.1	+	0	36				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ACATGGTGTGGGGGCTCCTCC	0.507000													4	33					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296628	238296628	+	Silent	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:238296628G>C	ENST00000295550.4	-	4	1361	c.909C>G	c.(907-909)gcC>gcG	p.A303A	COL6A3_ENST00000409809.1_Silent_p.A97A|COL6A3_ENST00000353578.4_Silent_p.A97A|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Silent_p.A303A|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Silent_p.A97A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	303	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGAACCTGGGCCTTGGTGG	0.572000													10	64					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103316394	103316394	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:103316394G>A	ENST00000520539.1	-	22	3437	c.2831C>T	c.(2830-2832)gCg>gTg	p.A944V	UBR5_ENST00000220959.4_Missense_Mutation_p.A944V|UBR5_ENST00000521922.1_Missense_Mutation_p.A938V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	944	Poly-Glu.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGAACGCTCCGCTTCTGAAAA	0.338000													10	56					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34081266	34081266	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:34081266G>T	ENST00000397527.1	+	23	3620	c.2900G>T	c.(2899-2901)gGg>gTg	p.G967V	CEP250_ENST00000342580.4_Missense_Mutation_p.G911V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	967	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGACCACTGGGATACTACAG	0.527000													29	156					2.24059e-21	3.59694e-21	1	1	0
CHRNB4	1143	broad.mit.edu	37	15	78921866	78921866	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:78921866C>A	ENST00000261751.3	-	5	892	c.781G>T	c.(781-783)Ggc>Tgc	p.G261C	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	261					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATCTTCTCGCCGCAGTCGGAT	0.567000													16	97					5.01169e-05	6.02911e-05	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113517870	113517870	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:113517870C>A	ENST00000284601.3	-	4	3345	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1093					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCATTAAGTCATAATGGTAG	0.353000													13	83					7.03913e-09	9.90845e-09	1	1	0
GGA1	26088	broad.mit.edu	37	22	38026925	38026925	+	Silent	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr22:38026925A>T	ENST00000406772.1	+	15	1780	c.1128A>T	c.(1126-1128)ccA>ccT	p.P376P	GGA1_ENST00000337437.4_Silent_p.P416P|GGA1_ENST00000343632.4_Silent_p.P449P|GGA1_ENST00000325180.8_Silent_p.P362P|GGA1_ENST00000381756.5_Silent_p.P466P	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	449	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCAGCAGCCAACCCCCCGGC	0.597000													6	45					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602157	37602157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:37602157G>T	ENST00000276461.5	+	6	434	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	ERLIN2_ENST00000335171.6_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000523887.1_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000519638.1_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000397228.2_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000518586.1_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000523107.1_Nonsense_Mutation_p.E123*	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	123					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GATCCACCACGAACTGAACCA	0.473000													16	113					1.15088e-07	1.55174e-07	1	1	0
COPS8	10920	broad.mit.edu	37	2	237994652	237994652	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:237994652G>C	ENST00000354371.2	+	1	698	c.45G>C	c.(43-45)aaG>aaC	p.K15N	COPS8_ENST00000409629.1_Missense_Mutation_p.K15N|COPS8_ENST00000409334.1_Missense_Mutation_p.K15N|COPS8_ENST00000392008.2_5'UTR	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	15					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GTTTCAAAAAGTTGCTGGATC	0.617000													3	12					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076429	93076429	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:93076429C>A	ENST00000510627.4	-	1	914	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	281						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGAGGCCCGGCTGTCCCCACA	0.582000													4	20					0.00909568	0.00963781	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168115466	168115466	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:168115466G>T	ENST00000409728.1	+	11	2598	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C	XIRP2_ENST00000409605.1_Missense_Mutation_p.G582C|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G804C|XIRP2_ENST00000409756.2_Missense_Mutation_p.G804C|XIRP2_ENST00000420519.1_Missense_Mutation_p.G837C	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTCAGCAGAGGCCTTATGGT	0.433000													7	22					0.00198382	0.00220424	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56313016	56313016	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:56313016C>G	ENST00000443188.1	-	7	2803	c.2093G>C	c.(2092-2094)tGt>tCt	p.C698S	NLRP11_ENST00000592953.1_Missense_Mutation_p.C599S|NLRP11_ENST00000589824.2_Missense_Mutation_p.C644S|NLRP11_ENST00000589093.1_Missense_Mutation_p.C698S|NLRP11_ENST00000360133.3_Missense_Mutation_p.C644S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	698							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATGGACGTACAGTTGATACT	0.463000													21	78					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854481	18854481	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:18854481G>C	ENST00000447925.2	-	9	1234	c.965C>G	c.(964-966)aCa>aGa	p.T322R	PLCZ1_ENST00000539875.1_Missense_Mutation_p.T131R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.T129R|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.T106R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.T324R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.T187R	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	324					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTTACCCCTGTTTCCTTGTC	0.393000													26	65					0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141292984	141292984	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:141292984A>T	ENST00000355413.4	+	3	400	c.141_splice	c.e3+1	p.Q47_splice	AGK_ENST00000473247.1_Splice_Site_p.Q19_splice|AGK_ENST00000535825.1_Splice_Site_p.Q47_splice|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000492693.1_Splice_Site_p.Q47_splice	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	47					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAAGAAGCTCAGGTAATACTA	0.363000													4	34					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418936	13418936	+	Silent	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:13418936G>T	ENST00000360228.5	-	14	1910	c.1911C>A	c.(1909-1911)ggC>ggA	p.G637G	CACNA1A_ENST00000573710.2_Silent_p.G638G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	638					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGACTTACTGGCCGCCGAAGA	0.547000													8	33					7.48243e-07	9.81302e-07	1	1	0
TMC1	117531	broad.mit.edu	37	9	75435985	75435985	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:75435985G>A	ENST00000297784.5	+	20	2531	c.1991G>A	c.(1990-1992)tGt>tAt	p.C664Y	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.C664Y|TMC1_ENST00000340019.3_Missense_Mutation_p.C664Y	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	664					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTTTTGATTGTGGTCCATTC	0.448000													31	140					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701792	56701792	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:56701792T>C	ENST00000586855.2	-	5	1205	c.892A>G	c.(892-894)Aga>Gga	p.R298G	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R298G			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTTTGCTTCTTTTGGGACTG	0.517000													34	125					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539202	55539202	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:55539202G>T	ENST00000220676.1	+	4	2908	c.2760G>T	c.(2758-2760)ttG>ttT	p.L920F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	920					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAGTTGGTTGCAGAACATAA	0.333000													3	38					0.115264	0.117466	1	1	0
TDP1	55775	broad.mit.edu	37	14	90432512	90432512	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr14:90432512G>A	ENST00000335725.4	+	4	831	c.581G>A	c.(580-582)gGg>gAg	p.G194E	TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.G194E|TDP1_ENST00000555880.1_Missense_Mutation_p.G194E|TDP1_ENST00000393452.3_Missense_Mutation_p.G194E|TDP1_ENST00000357382.3_5'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	194					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTTTATTTGGGACGCTTGTT	0.323000								Repair of DNA-protein crosslinks					4	30					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102058413	102058413	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:102058413G>A	ENST00000318222.3	-	4	1019	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	PKD2L1_ENST00000353274.3_Missense_Mutation_p.H213Y|PKD2L1_ENST00000338519.3_Missense_Mutation_p.H213Y	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	213					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AAGTCTTCATGCACCACACAG	0.547000													25	83					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043216	34043216	+	Silent	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:34043216C>T	ENST00000382065.3	-	1	721	c.15G>A	c.(13-15)caG>caA	p.Q5Q	C1QTNF3_ENST00000231338.7_Silent_p.Q5Q	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					AATAGATGAGCTGCCTCCAAA	0.512000													22	102					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145137	55145137	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr6:55145137G>A	ENST00000370862.3	+	6	1336	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	334					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.A334S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGGATGTTTGCCCATACTGA	0.368000													14	73					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167798481	167798481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:167798481G>T	ENST00000265293.4	+	2	674	c.172G>T	c.(172-174)Gga>Tga	p.G58*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.G58*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	58	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTTGCCGCTAGGATGGGAAGA	0.527000													7	47					0.000157383	0.000185612	1	1	0
FRY	10129	broad.mit.edu	37	13	32759186	32759186	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr13:32759186A>T	ENST00000380250.3	+	26	3716	c.3220A>T	c.(3220-3222)Atg>Ttg	p.M1074L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1074					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTGACCCGCATGCTCCTAGA	0.423000													29	109					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104116955	104116955	+	Missense_Mutation	SNP	A	A	G	rs150659982		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr1:104116955A>G	ENST00000361355.4	+	7	1434	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	273					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAATTCAAGTATGGTGCAAAA	0.378000													34	180					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106163575	106163575	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:106163575G>A	ENST00000369704.3	+	14	2262	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	710								p.V710L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCCCCTGAATGTGCACAGATG	0.512000													3	10					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11114068	11114068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:11114068G>T	ENST00000358026.2	+	13	2280	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E666*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	666	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAAGAAGAGGAAGAGGTAAG	0.507000			"""F, N, Mis"""		NSCLC								16	87					0.00400662	0.00438082	1	1	0
TMEM99	147184	broad.mit.edu	37	17	38991028	38991028	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:38991028G>A	ENST00000301665.3	+	3	564	c.260G>A	c.(259-261)tGc>tAc	p.C87Y		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	87						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				CTTTGTGCTTGCGGTCATCGG	0.453000													8	174					0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	270260	270260	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:270260C>G	ENST00000360321.2	-	3	265	c.127G>C	c.(127-129)Gtc>Ctc	p.V43L	C20orf96_ENST00000400269.3_Intron|C20orf96_ENST00000382369.5_Intron	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	43										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTTGTTGGACTGGAGGCAGA	0.488000													11	77					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90521183	90521183	+	Silent	SNP	A	A	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:90521183A>T	ENST00000404459.1	+	1	21	c.21A>T	c.(19-21)acA>acT	p.T7T		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	7					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGCTTTTAACAACAACTTGTT	0.318000													13	79					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814741	137814741	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:137814741A>G	ENST00000409968.1	+	3	1069	c.891A>G	c.(889-891)atA>atG	p.I297M	THSD7B_ENST00000413152.2_Missense_Mutation_p.I266M|THSD7B_ENST00000272643.3_Missense_Mutation_p.I297M|THSD7B_ENST00000543459.1_Missense_Mutation_p.I156M					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAATAGAGATAGGTTATCAAA	0.378000													8	35					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636250	44636250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:44636250C>T	ENST00000262894.6	+	5	1763	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Nonsense_Mutation_p.Q495*	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAGATTTACTCAGAATTCACA	0.388000													16	78					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207611130	207611130	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:207611130C>G	ENST00000374412.3	-	8	1512	c.1237G>C	c.(1237-1239)Ggg>Cgg	p.G413R	MDH1B_ENST00000454776.2_Missense_Mutation_p.G413R|MDH1B_ENST00000392214.2_Missense_Mutation_p.G200R|MDH1B_ENST00000449792.1_Missense_Mutation_p.G315R	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	413					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAGACGATCCCTTTCGGAATA	0.388000													5	45					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262738	45262738	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:45262738G>T	ENST00000303230.4	-	8	2015	c.1958C>A	c.(1957-1959)aCt>aAt	p.T653N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	653						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGGGGTCGTAGTAGACGATGT	0.537000													15	89					0.000308642	0.000356125	1	1	0
HIF3A	64344	broad.mit.edu	37	19	46828896	46828896	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:46828896G>T	ENST00000339613.2	+	11	1527	c.1272_splice	c.e11+1	p.Q424_splice	HIF3A_ENST00000600383.1_Splice_Site_p.Q411_splice|HIF3A_ENST00000244303.6_Splice_Site_p.Q411_splice|HIF3A_ENST00000420102.2_Splice_Site_p.Q429_splice|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Splice_Site_p.Q411_splice|HIF3A_ENST00000300862.3_Splice_Site_p.Q478_splice|HIF3A_ENST00000377670.4_Splice_Site_p.Q480_splice			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ATATAGCTCAGGTAAGGGCTG	0.493000													26	81					6.32553e-13	9.57809e-13	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154396219	154396219	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:154396219C>G	ENST00000435029.4	+	1	2960	c.2800C>G	c.(2800-2802)Ctt>Gtt	p.L934V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	934	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGCTATACCTTGTCAGCCA	0.463000													13	74					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203659	140203659	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:140203659G>T	ENST00000529859.1	+	1	2299	c.2299G>T	c.(2299-2301)Gac>Tac	p.D767Y	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D767Y|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D767Y	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAAAACAGACCTCATGGC	0.542000													13	66					2.27111e-07	3.03658e-07	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481026	140481026	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:140481026T>C	ENST00000231130.2	+	1	793	c.793T>C	c.(793-795)Tcg>Ccg	p.S265P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCACTGTCTCGGCTTCTGA	0.398000													8	107					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807709	20807709	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr19:20807709G>T	ENST00000601440.1	-	4	1120	c.974C>A	c.(973-975)tCc>tAc	p.S325Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAGGGTATAGGAGTACTTAAA	0.378000													6	76					2.7689e-08	3.81917e-08	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72851153	72851153	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr17:72851153C>T	ENST00000293190.5	-	2	225	c.79G>A	c.(79-81)Gag>Aag	p.E27K	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.E27K	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	27					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ATGCCCTGCTCGCCCTGCCCC	0.716000													3	22					0	0	1	0	0
MRPS26	64949	broad.mit.edu	37	20	3028485	3028485	+	Silent	SNP	G	G	C	rs138297176		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr20:3028485G>C	ENST00000380325.3	+	4	712	c.588G>C	c.(586-588)ctG>ctC	p.L196L		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	196					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						GAGAGGGGCTGGTGGTCAGGC	0.592000													8	47					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596229	3596229	+	Splice_Site	DEL	C	C	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:3596229delC	ENST00000315212.3	-	6	1005		c.e6+1			NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1						RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGAAAGCTTACCATTTATCGT	0.413													8	43	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249300	90249300	+	RNA	DEL	G	G	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:90249300delG	ENST00000468879.1	+	0	437																											AAGGTTCAGCGGCAGTGGATC	0.468													23	235	---	---	---	---					
IGFBP5	3488	broad.mit.edu	37	2	217543728	217543728	+	Frame_Shift_Del	DEL	G	G	-	rs11575194	byFrequency	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr2:217543728delG	ENST00000233813.4	-	2	1161	c.412delC	c.(412-414)ggfs	p.R138fs		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	138			R -> W (in dbSNP:rs11575194).		negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTTGGGCCGGAAGATCTTG	0.602													8	86	---	---	---	---					
DZIP3	9666	broad.mit.edu	37	3	108403130	108403130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr3:108403130delA	ENST00000361582.3	+	27	3181	c.2951delA	c.(2950-2952)cafs	p.Q984fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.Q984fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	984					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACTGTTCCTCAAATGCCTGCA	0.393													50	262	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13719017	13719018	+	Frame_Shift_Ins	INS	-	-	G	rs3756672	by1000genomes	TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr5:13719017_13719018insG	ENST00000265104.4	-	72	12576_12577	c.12472_12473insC	c.(12472-12474)ggcfs	p.G4158fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4158	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTCCTGCCCGGAGTCCTTGT	0.431									Kartagener syndrome				12	111	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													2	4	---	---	---	---					
BMP1	649	broad.mit.edu	37	8	22056769	22056769	+	Frame_Shift_Del	DEL	C	C	-	rs151297513		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:22056769delC	ENST00000397816.3	+	16	2561	c.2342delC	c.(2341-2343)gcfs	p.A781fs	BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGACTCTGGCCCCCCAGGAG	0.602													26	89	---	---	---	---					
ZMAT4	79698	broad.mit.edu	37	8	40532251	40532251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr8:40532251delC	ENST00000297737.6	-	5	695	c.549delG	c.(547-549)ggfs	p.G183fs	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	183						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCAGGGTTGTCCCCAGTTGTT	0.478													31	244	---	---	---	---					
GRIN3A	116443	broad.mit.edu	37	9	104499661	104499661	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:104499661delG	ENST00000361820.3	-	1	1201	c.601delC	c.(601-603)agfs	p.Q201fs		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	201					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCCTGGCTCTGGGGGAAGGCG	0.592													9	53	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													3	3	---	---	---	---					
MRC1	4360	broad.mit.edu	37	10	18155512	18155512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr10:18155512delC	ENST00000239761.3	+	12	1908	c.1805delC	c.(1804-1806)gcfs	p.A602fs		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	602	C-type lectin 3.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GGGTGTGTTGCCATGAGAACC	0.493													5	9	---	---	---	---					
ACVR1B	91	broad.mit.edu	37	12	52370271	52370271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr12:52370271delG	ENST00000257963.4	+	3	569	c.492delG	c.(490-492)atfs	p.M164fs	ACVR1B_ENST00000542485.1_Frame_Shift_Del_p.M112fs|ACVR1B_ENST00000541224.1_Frame_Shift_Del_p.M164fs|ACVR1B_ENST00000426655.2_Frame_Shift_Del_p.M164fs|ACVR1B_ENST00000415850.2_Frame_Shift_Del_p.M164fs	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	164					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GACTGGACATGGAAGATCCCT	0.502													26	116	---	---	---	---					
THBS1	7057	broad.mit.edu	37	15	39874466	39874466	+	Frame_Shift_Del	DEL	G	G	-	rs139441587		TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr15:39874466delG	ENST00000260356.5	+	3	305	c.140delG	c.(139-141)cafs	p.R47fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	47	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTGGGCGCCGACTGGTGAAG	0.592													15	45	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733463	30733463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr16:30733463delG	ENST00000262518.4	+	22	3947	c.3562delG	c.(3562-3564)ggfs	p.G1188fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.G1092fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.G1188fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1188	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTCAGCATCGGGCAGTTAGC	0.527													19	89	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28574287	28574292	+	In_Frame_Del	DEL	CATAAT	CATAAT	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr18:28574287_28574292delCATAAT	ENST00000360428.4	-	16	2620_2625	c.2540_2545delATTATG	c.(2539-2547)gtc>g	p.DYV847del	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	847					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGTGAGGACATAATCTTGGGATGG	0.350													9	47	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11039156	11039156	+	RNA	DEL	G	G	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr21:11039156delG	ENST00000470054.1	-	0	1047									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCCTCATGTGGGGACACTAA	0.398													20	434	---	---	---	---					
POTEH	23784	broad.mit.edu	37	22	16267049	16267049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chr22:16267049delG	ENST00000343518.6	-	9	1451	c.1400delC	c.(1399-1401)cafs	p.P467fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	467										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CAGGTTTTCTGGGAATCCCAT	0.398													10	648	---	---	---	---					
ATP11C	286410	broad.mit.edu	37	X	138827930	138827932	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-MP-A4TA-01A-21D-A24P-08	TCGA-MP-A4TA-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	453b2461-e5a5-425d-9bdf-be89453081a7	f53cff28-bc8a-4fdd-86d6-c1510d052eed	g.chrX:138827930_138827932delAAG	ENST00000370557.1	-	25	3931_3933	c.2904_2906delCTT	c.(2902-2907)ttt>tt	p.FF968del	ATP11C_ENST00000359686.2_In_Frame_Del_p.FF974del|ATP11C_ENST00000327569.3_In_Frame_Del_p.FF974del|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_In_Frame_Del_p.FF974del|ATP11C_ENST00000370543.1_In_Frame_Del_p.FF974del			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	974					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTAAGTCCCAAAGAAGAACACTG	0.404													7	101	---	---	---	---					
