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
ANKRD20A8P	729171	broad.mit.edu	37	2	95514953	95514953	+	RNA	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:95514953G>T	ENST00000432432.2	-	0	704					NR_040113.1													p.L199M(1)									TACCGTCTCAGCCTATCAACG	0.318000													85	224					8.6486e-37	1.7001e-36	0.003610	1	0
NPHP4	261734	broad.mit.edu	37	1	5925161	5925161	+	Splice_Site	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:5925161C>A	ENST00000378156.4	-	27	4082		c.e27+1		NPHP4_ENST00000478423.2_Splice_Site	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4						actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.?(1)		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)		AGAGGCCGTACCTTCAGCTCC	0.637000													4	31					5.9392e-07	7.1922e-07	0.001168	1	0
RNF185	91445	broad.mit.edu	37	22	31583195	31583195	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr22:31583195T>A	ENST00000326132.5	+	2	274	c.115T>A	c.(115-117)Tgc>Agc	p.C39S	RNF185_ENST00000426256.2_Missense_Mutation_p.S14R|RNF185_ENST00000266252.7_Missense_Mutation_p.C39S	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	39						integral to membrane	zinc ion binding	p.C39S(1)		NS(1)|large_intestine(1)|lung(3)|skin(1)	6						CACTTTCGAGTGCAACATCTG	0.617000													31	71					0	0	0.009535	0	0
EPX	8288	broad.mit.edu	37	17	56277675	56277675	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:56277675C>A	ENST00000225371.5	+	10	1737	c.1627C>A	c.(1627-1629)Cgg>Agg	p.R543R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	543					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R543R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCTCCGGGACCGGCTGTTTCG	0.647000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	68					3.77016e-25	6.47925e-25	0.013114	1	0
KCNH7	90134	broad.mit.edu	37	2	163693240	163693240	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:163693240G>T	ENST00000332142.5	-	2	213	c.114C>A	c.(112-114)aaC>aaA	p.N38K	KCNH7_ENST00000328032.4_Missense_Mutation_p.N38K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	38					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.N38K(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGATGGCACAGTTCTGCACTC	0.418000													24	30					4.26978e-12	5.83536e-12	0.003330	1	0
SYT16	83851	broad.mit.edu	37	14	62547784	62547784	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:62547784G>T	ENST00000430451.2	+	4	1423	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	409	C2 1.							p.G389V(1)|p.G409V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATACAGAGAGGGCCCAACCCC	0.592000													17	18					3.52763e-06	4.09891e-06	0.004990	1	0
SNX15	29907	broad.mit.edu	37	11	64806226	64806226	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:64806226G>A	ENST00000377244.3	+	7	977	c.847G>A	c.(847-849)Gag>Aag	p.E283K	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	283	MIT.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.E283K(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGCGGGATGAGAAGGCAGG	0.652000													9	9					0	0	0.004482	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215250	140215250	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:140215250C>T	ENST00000525929.1	+	1	1282	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R428W|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1												p.R428W(6)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTACCGCGCGGGACGGGGG	0.617000													75	130					0	0	0.003610	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47626850	47626850	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr20:47626850G>T	ENST00000371917.4	+	27	3666	c.3666G>T	c.(3664-3666)tgG>tgT	p.W1222C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1222					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.W1222C(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTCAGGTTGGAAGAACATCT	0.567000													37	24					9.80977e-26	1.71671e-25	0.004289	1	0
LILRA4	23547	broad.mit.edu	37	19	54850356	54850356	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:54850356G>T	ENST00000291759.4	-	1	65	c.9C>A	c.(7-9)ctC>ctA	p.L3L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	3				L -> P (in Ref. 1; AAD02203).		integral to membrane	receptor activity	p.L3L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTGTGAGAATGAGGGTCATGG	0.572000													17	40					1.02788e-11	1.39812e-11	0.004990	1	0
IGLV1-47	28822	broad.mit.edu	37	22	22712446	22712446	+	RNA	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr22:22712446C>A	ENST00000390294.2	+	0	245																											CAGGAACGGCCCCCAAACTCC	0.567000													98	115					1.54263e-40	3.13995e-40	0.003610	1	0
TENM3	55714	broad.mit.edu	37	4	183713606	183713606	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:183713606C>T	ENST00000511685.1	+	26	5904	c.5781C>T	c.(5779-5781)gaC>gaT	p.D1927D	TENM3_ENST00000406950.2_Silent_p.D1927D					teneurin transmembrane protein 3									p.D1927D(1)									TCATCACGGACTACAACGAGG	0.502000													30	40					0	0	0.007291	0	0
PRIM2	5558	broad.mit.edu	37	6	57183296	57183296	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:57183296G>T	ENST00000607273.1	+	2	140	c.53G>T	c.(52-54)aGg>aTg	p.R18M	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	18					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.R18M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGTGACCAGAGGAATGCTTCC	0.398000													9	13					2.17888e-05	2.46196e-05	0.006214	1	0
SCML2	10389	broad.mit.edu	37	X	18278317	18278317	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chrX:18278317C>A	ENST00000251900.4	-	9	1202	c.1043G>T	c.(1042-1044)gGg>gTg	p.G348V	SCML2_ENST00000398048.3_Missense_Mutation_p.G84V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	348					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G348V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATGGCCCAGAAGCGAC	0.353000													27	15					9.65021e-13	1.33798e-12	0.010818	1	0
FAM65B	9750	broad.mit.edu	37	6	24843714	24843714	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:24843714G>T	ENST00000259698.4	-	14	1471	c.1296C>A	c.(1294-1296)agC>agA	p.S432R	FAM65B_ENST00000378023.4_Missense_Mutation_p.S382R|FAM65B_ENST00000510784.2_Missense_Mutation_p.S416R|FAM65B_ENST00000538035.1_Missense_Mutation_p.S411R|FAM65B_ENST00000540914.1_Missense_Mutation_p.S382R	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	432					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.S382R(1)|p.S432R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GGTCACTGAAGCTGAGCGACA	0.478000													38	10					9.8876e-21	1.60324e-20	0.004878	1	0
HCN1	348980	broad.mit.edu	37	5	45267293	45267293	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:45267293G>T	ENST00000303230.4	-	7	1738	c.1681C>A	c.(1681-1683)Ctt>Att	p.L561I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	561						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L561I(1)		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						AGTGAGTAAAGACGACAATAT	0.428000													28	56					1.38267e-23	2.33427e-23	0.005443	1	0
ARHGAP17	55114	broad.mit.edu	37	16	24942256	24942256	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:24942256C>T	ENST00000289968.6	-	19	2433	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	ARHGAP17_ENST00000303665.5_Silent_p.Q710Q|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	788	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	p.Q788Q(1)|p.Q710Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CAGCATGTGGCTGTGCAGTTT	0.632000													26	98					0	0	0.003330	0	0
TANC1	85461	broad.mit.edu	37	2	159992709	159992709	+	Silent	SNP	C	C	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:159992709C>G	ENST00000263635.6	+	5	501	c.264C>G	c.(262-264)ccC>ccG	p.P88P	TANC1_ENST00000454300.1_Silent_p.P88P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	88						cell junction|postsynaptic density|postsynaptic membrane	binding	p.P88P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTACAGGTCCCGTCAGGAAGC	0.483000													52	99					0	0	0.003610	0	0
HTR6	3362	broad.mit.edu	37	1	19992913	19992913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:19992913G>T	ENST00000289753.1	+	1	1134	c.667G>T	c.(667-669)Gcc>Tcc	p.A223S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	223					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.A223S(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGTGCAGGTGGCCTCCCTCAC	0.657000													12	25					6.42651e-13	8.95344e-13	0.010729	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564316	176564316	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:176564316C>T	ENST00000367662.3	+	3	2740	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R526C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	526	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R526C(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGGTGATACGCTACCAGGT	0.537000													13	51					0	0	0.001368	0	0
OR2T33	391195	broad.mit.edu	37	1	248436975	248436975	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:248436975G>A	ENST00000318021.2	-	1	163	c.142C>T	c.(142-144)Cac>Tac	p.H48Y		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TGGTCCCAGTGAATCAGGAGA	0.522000													95	63					0	0	0.003610	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239695	135239695	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:135239695C>A	ENST00000265605.2	-	7	1390	c.1322G>T	c.(1321-1323)gGc>gTc	p.G441V	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G387V|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G391V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	441					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.G441V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCAGACCAAGCCAGACTGCAG	0.562000													15	30					2.23348e-06	2.6379e-06	0.004007	1	0
LSAMP	4045	broad.mit.edu	37	3	116163754	116163754	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:116163754G>A	ENST00000490035.1	-	1	624	c.125C>T	c.(124-126)aCc>aTc	p.T42I	LSAMP_ENST00000539563.1_Missense_Mutation_p.T39I	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	42	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.T42I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGCCTCACGGTGATGTTGTC	0.562000													4	16					0	0	0.009096	0	0
ENOX2	10495	broad.mit.edu	37	X	129837188	129837188	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chrX:129837188C>A	ENST00000338144.3	-	5	507	c.90G>T	c.(88-90)atG>atT	p.M30I	ENOX2_ENST00000370927.1_Missense_Mutation_p.M30I|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Start_Codon_SNP_p.M1I|ENOX2_ENST00000370935.1_Start_Codon_SNP_p.M1I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	30					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.M30I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGTAGTGTCATTGCAGTGG	0.418000													54	13					1.93748e-29	3.56447e-29	0.003610	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103091378	103091378	+	Silent	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:103091378A>T	ENST00000375735.2	+	57	9117	c.8973A>T	c.(8971-8973)gcA>gcT	p.A2991A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A2991A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2991	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.A424A(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTAAACTAGCAGTTGGAAACA	0.323000													64	91					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55755478	55755478	+	Silent	SNP	C	C	A	rs139853291	byFrequency	TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr10:55755478C>A	ENST00000373965.2	-	22	3214	c.2820G>T	c.(2818-2820)ggG>ggT	p.G940G	PCDH15_ENST00000361849.3_Silent_p.G933G|PCDH15_ENST00000395445.1_Silent_p.G940G|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.G911G|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.G862G|PCDH15_ENST00000320301.6_Silent_p.G933G|PCDH15_ENST00000395432.2_Silent_p.G896G|PCDH15_ENST00000395438.1_Silent_p.G933G|PCDH15_ENST00000414778.1_Silent_p.G938G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.G544G|PCDH15_ENST00000395430.1_Silent_p.G933G|PCDH15_ENST00000373955.1_Silent_p.G933G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	933	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G933G(2)|p.G938G(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGCCACCATCCCTTTGTATA	0.393000										HNSCC(58;0.16)			25	30					8.24728e-16	1.25237e-15	0.004656	1	0
PCSK2	5126	broad.mit.edu	37	20	17462466	17462466	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr20:17462466C>A	ENST00000262545.2	+	12	1983	c.1668C>A	c.(1666-1668)acC>acA	p.T556T	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.T537T|PCSK2_ENST00000536609.1_Silent_p.T521T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	556					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.T556T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTCATGACCACTCACACGT	0.607000													14	45					5.3912e-06	6.21396e-06	0.006122	1	0
TRIM51	84767	broad.mit.edu	37	11	55653690	55653690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:55653690G>T	ENST00000449290.2	+	3	595	c.503G>T	c.(502-504)tGg>tTg	p.W168L	TRIM51_ENST00000244891.3_Missense_Mutation_p.W25L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	168						intracellular	zinc ion binding	p.W9L(1)|p.W168L(1)									ACCAGATGCTGGAAGGTTAGT	0.398000													30	41					8.4185e-14	1.20806e-13	0.012213	1	0
LRP12	29967	broad.mit.edu	37	8	105503016	105503016	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:105503016C>A	ENST00000276654.5	-	7	2573	c.2465G>T	c.(2464-2466)cGa>cTa	p.R822L	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R803L	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	822					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R822L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGGGCCATCTCGATTACTTGG	0.468000													14	52					4.3838e-07	5.35383e-07	0.001855	1	0
FOXF1	2294	broad.mit.edu	37	16	86545096	86545096	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:86545096C>T	ENST00000262426.4	+	1	964	c.921C>T	c.(919-921)caC>caT	p.H307H		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	307					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.H282H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TCTCCACGCACTCCCTGGAGC	0.692000													6	9					0	0	0.001168	0	0
ENOX1	55068	broad.mit.edu	37	13	43930154	43930154	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr13:43930154G>T	ENST00000261488.6	-	8	1301	c.724C>A	c.(724-726)Cgg>Agg	p.R242R	ENOX1_ENST00000412891.1_Silent_p.R242R|ENOX1_ENST00000540032.1_Silent_p.R55R	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	242					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R242R(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AGCTTGCGCCGGTGCCGCTCC	0.617000													74	32					6.00099e-30	1.11115e-29	0.003610	1	0
DHX38	9785	broad.mit.edu	37	16	72141383	72141383	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:72141383C>T	ENST00000268482.3	+	20	3254	c.2745C>T	c.(2743-2745)ccC>ccT	p.P915P	DHX38_ENST00000536867.1_Silent_p.P227P	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	915					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P915P(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGACCCGCCCCCGGAGGACA	0.637000													20	25					0	0	0.008871	0	0
VWF	7450	broad.mit.edu	37	12	6085306	6085306	+	Nonsense_Mutation	SNP	G	G	A	rs61751288		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:6085306G>A	ENST00000261405.5	-	43	7662	c.7408C>T	c.(7408-7410)Cag>Tag	p.Q2470*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2470	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.Q2470*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGCTTCTGGGAGCACTGG	0.637000													18	80					0	0	0.006122	0	0
HRNR	388697	broad.mit.edu	37	1	152187539	152187539	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:152187539C>A	ENST00000368801.2	-	3	6641	c.6566G>T	c.(6565-6567)gGg>gTg	p.G2189V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2189					keratinization		calcium ion binding|protein binding	p.G2189M(1)		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)			CGAACCGGACCCATGTCGGCC	0.642000													11	406					2.14196e-07	2.64975e-07	0.007291	1	0
ABCA12	26154	broad.mit.edu	37	2	215820017	215820017	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:215820017G>T	ENST00000272895.7	-	43	6521	c.6302C>A	c.(6301-6303)aCt>aAt	p.T2101N	ABCA12_ENST00000389661.4_Missense_Mutation_p.T1783N|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2101					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T2101N(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGACGTAAGTGATGAAGGC	0.403000													15	28					2.32078e-09	3.00029e-09	0.003163	1	0
NBEAL2	23218	broad.mit.edu	37	3	47043987	47043987	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:47043987G>T	ENST00000450053.3	+	32	5457	c.5278G>T	c.(5278-5280)Gcc>Tcc	p.A1760S	NBEAL2_ENST00000383740.2_Missense_Mutation_p.A39S|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1576S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1760							binding	p.A1760S(1)|p.A1137S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGGGAGCGCGCCCAGAGTCG	0.577000													24	14					3.5997e-14	5.29802e-14	0.002299	1	0
C11orf74	119710	broad.mit.edu	37	11	36669581	36669581	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:36669581C>G	ENST00000446510.2	+	5	473	c.374C>G	c.(373-375)cCa>cGa	p.P125R	C11orf74_ENST00000534635.1_Missense_Mutation_p.P51R|C11orf74_ENST00000347206.4_Missense_Mutation_p.P51R|C11orf74_ENST00000334307.5_Missense_Mutation_p.P125R			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	125								p.P125R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CTGCTGCTTCCAGGAGAAGTG	0.443000													59	156					0	0	0.003610	0	0
XYLT1	64131	broad.mit.edu	37	16	17211799	17211799	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:17211799C>T	ENST00000261381.6	-	11	2345	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	754					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R754H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAAAGTTGCGGAATAGCCT	0.572000													17	23					0	0	0.012319	0	0
UNC13C	440279	broad.mit.edu	37	15	54305977	54305977	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr15:54305977A>T	ENST00000545554.1	+	1	877	c.877A>T	c.(877-879)Aca>Tca	p.T293S	UNC13C_ENST00000260323.11_Missense_Mutation_p.T293S|UNC13C_ENST00000537900.1_Missense_Mutation_p.T293S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	293					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T293S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGTTGCGCACAGGGTTTGT	0.453000													62	135					0	0	0.003610	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99342456	99342456	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:99342456G>T	ENST00000408927.3	+	12	1464	c.1351G>T	c.(1351-1353)Gtg>Ttg	p.V451L	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V402L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V451L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V403L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V452L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V360L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	451							binding|GTPase activator activity	p.V451L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GGAGCGTTTGGTGGAATGGTG	0.433000			T	NUP98	T-ALL								22	30					3.62473e-10	4.77201e-10	0.012319	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516961	140516961	+	Missense_Mutation	SNP	C	C	T	rs17844424		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:140516961C>T	ENST00000231134.5	+	1	2162	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P649S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGGCGAGCCTCCGCGCTC	0.731000													36	57					0	0	0.003271	0	0
IL12RB1	3594	broad.mit.edu	37	19	18174812	18174812	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:18174812C>T	ENST00000600835.1	-	14	1795	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	IL12RB1_ENST00000430026.2_Missense_Mutation_p.V498M|IL12RB1_ENST00000593993.1_Missense_Mutation_p.V498M			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	498	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma 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	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	p.V498M(1)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTGGGCTGCACGGGATGCTCT	0.637000													12	4					0	0	0.010729	0	0
PTH	5741	broad.mit.edu	37	11	13514029	13514029	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:13514029C>A	ENST00000282091.1	-	3	385	c.271G>T	c.(271-273)Gtt>Ttt	p.V91F	PTH_ENST00000529816.1_Missense_Mutation_p.V91F	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	91					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	p.V91F(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TGGCTCTCAACCAAGACATTG	0.443000													36	133					3.76114e-14	5.47942e-14	0.004289	1	0
FMN1	342184	broad.mit.edu	37	15	33091096	33091096	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr15:33091096T>A	ENST00000334528.9	-	15	3369	c.3370A>T	c.(3370-3372)Aca>Tca	p.T1124S	FMN1_ENST00000559047.1_Missense_Mutation_p.T1347S|FMN1_ENST00000561249.1_Missense_Mutation_p.T1249S	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1347	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.T1347S(1)|p.T1124S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TAGCTGGGTGTGATCTCCTTC	0.428000													13	23					0	0	0.001855	0	0
EMR3	84658	broad.mit.edu	37	19	14736374	14736374	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:14736374A>T	ENST00000253673.5	-	15	1950	c.1850T>A	c.(1849-1851)gTa>gAa	p.V617E	EMR3_ENST00000443157.2_Missense_Mutation_p.V491E|EMR3_ENST00000344373.4_Missense_Mutation_p.V565E|EMR3_ENST00000599900.1_Missense_Mutation_p.V402E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	617					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V617E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTTTGATTTTACGATCTCTCT	0.403000													63	39					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29998953	29998953	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:29998953G>A	ENST00000308893.4	+	16	4403	c.3360G>A	c.(3358-3360)aaG>aaA	p.K1120K	TAOK2_ENST00000543033.1_Silent_p.K1007K|TAOK2_ENST00000416441.2_Silent_p.K947K|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1120					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.K1120K(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AAACCAACAAGGATGGCTTCC	0.667000													27	98					0	0	0.005443	0	0
CACNA1E	777	broad.mit.edu	37	1	181620507	181620507	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:181620507C>A	ENST00000526775.1	+	7	1150	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L329M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L280M|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L329M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L280M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L329M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	329					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L329M(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGGAATTGGCTGTACTTCAT	0.428000													135	74					1.26737e-53	2.71444e-53	0.003610	1	0
BRIP1	83990	broad.mit.edu	37	17	59937249	59937249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:59937249C>A	ENST00000259008.2	-	3	380	c.113G>T	c.(112-114)aGc>aTc	p.S38I	BRIP1_ENST00000577598.1_Missense_Mutation_p.S38I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	38	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.S38I(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATGTTGCTTGCTGTTTAATCC	0.353000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					26	43					4.7796e-09	6.09665e-09	0.004656	1	0
FER1L6	654463	broad.mit.edu	37	8	125025723	125025723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:125025723C>A	ENST00000522917.1	+	15	2080	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	FER1L6_ENST00000399018.1_Missense_Mutation_p.P625H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	625						integral to membrane		p.P625N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGGAGGCACCTGAAGAGAAA	0.493000													27	47					2.46105e-21	4.03613e-21	0.010818	1	0
ZEB2	9839	broad.mit.edu	37	2	145156362	145156362	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:145156362T>A	ENST00000558170.2	-	8	3576	c.2392A>T	c.(2392-2394)Agt>Tgt	p.S798C	ZEB2_ENST00000409487.3_Missense_Mutation_p.S798C|ZEB2_ENST00000303660.4_Missense_Mutation_p.S798C|ZEB2_ENST00000539609.3_Missense_Mutation_p.S774C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	798						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.S798C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATGAACTACTGTGGGAGTTT	0.388000													76	128					0	0	0.003610	0	0
ZNF638	27332	broad.mit.edu	37	2	71654429	71654429	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:71654429G>C	ENST00000409544.1	+	24	6060	c.5430G>C	c.(5428-5430)aaG>aaC	p.K1810N	ZNF638_ENST00000264447.4_Missense_Mutation_p.K1810N|ZNF638_ENST00000409407.1_Missense_Mutation_p.K750N|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1810					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.K1810N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGAATAGAAAGAAGAGAGCTG	0.368000													28	63					0	0	0.005443	0	0
IKBKAP	8518	broad.mit.edu	37	9	111663784	111663784	+	Silent	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr9:111663784T>A	ENST00000374647.5	-	18	2242	c.1935A>T	c.(1933-1935)gcA>gcT	p.A645A	IKBKAP_ENST00000537196.1_Silent_p.A296A	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	645					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.A645A(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CATCATATACTGCAAATGACG	0.408000													12	26					0	0	0.001368	0	0
COL24A1	255631	broad.mit.edu	37	1	86590968	86590968	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:86590968C>A	ENST00000370571.2	-	3	1417	c.1051G>T	c.(1051-1053)Gtg>Ttg	p.V351L	COL24A1_ENST00000436319.1_Missense_Mutation_p.V351L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	351					cell adhesion	collagen	extracellular matrix structural constituent	p.V351L(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGAGTGGTCACTGACAGGCTG	0.413000													46	48					3.77016e-25	6.47925e-25	0.013114	1	0
SLC36A3	285641	broad.mit.edu	37	5	150657178	150657178	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:150657178G>A	ENST00000335230.3	-	10	1600	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	SLC36A3_ENST00000377713.3_Silent_p.L438L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	397						integral to membrane		p.L397L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTACCAGGGAGATGACC	0.532000													26	43					0	0	0.006320	0	0
PHIP	55023	broad.mit.edu	37	6	79697925	79697925	+	Splice_Site	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:79697925C>T	ENST00000275034.4	-	21	2628		c.e21+1			NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGATATCTTACATCTGAAGAA	0.318000													10	65					0	0	0.001368	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688836	26688836	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr22:26688836G>T	ENST00000529632.2	+	2	755	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	SEZ6L_ENST00000360929.3_Missense_Mutation_p.D187Y|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D187Y|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D187Y|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D187Y	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	187						endoplasmic reticulum membrane|integral to membrane		p.D187Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTTGGCTGGACCGAAAGGA	0.647000													27	31					4.87955e-14	7.03735e-14	0.005443	1	0
MYH4	4622	broad.mit.edu	37	17	10363568	10363568	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:10363568T>A	ENST00000255381.2	-	13	1328	c.1218A>T	c.(1216-1218)agA>agT	p.R406S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	406	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R406S(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGACCTTGACTCTGGGATAGC	0.453000													66	59					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104030904	104030904	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:104030904C>T	ENST00000388887.2	+	7	803	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	200	EGF-like 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A200V(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGAATGTGCAGCCTTGCTC	0.428000													132	40					0	0	0.003610	0	0
KRT85	3891	broad.mit.edu	37	12	52756686	52756686	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:52756686G>A	ENST00000257901.3	-	6	1104	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	KRT85_ENST00000544265.1_Silent_p.N131N	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	343	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.N343N(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGATCATGCGGTTCAGCTCGT	0.582000													96	34					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175092666	175092666	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:175092666G>T	ENST00000239462.4	+	12	2894	c.2781G>T	c.(2779-2781)agG>agT	p.R927S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	927	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R927S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGAGACCAGGGAGGTTCCGG	0.622000													61	27					1.74971e-23	2.93665e-23	0.003610	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	9					4.7546e-09	6.09184e-09	0.004007	1	0
B3GAT3	26229	broad.mit.edu	37	11	62384573	62384573	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:62384573G>T	ENST00000531383.1	-	3	710	c.504C>A	c.(502-504)ctC>ctA	p.L168L	B3GAT3_ENST00000265471.5_Silent_p.L168L|B3GAT3_ENST00000534026.1_Silent_p.L168L			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	168					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.L168L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CTCTGCCCCGGAGCCAGTCCA	0.662000													38	56					3.21399e-22	5.30124e-22	0.004878	1	0
FSHR	2492	broad.mit.edu	37	2	49216164	49216164	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:49216164G>T	ENST00000406846.2	-	6	595	c.476C>A	c.(475-477)aCa>aAa	p.T159K	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Intron|FSHR_ENST00000346173.3_Missense_Mutation_p.T159K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	159					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.T159K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTTTCAATTGTGTGGATGTT	0.328000									Gonadal Dysgenesis, 46 XX				19	25					1.10513e-12	1.51758e-12	0.002299	1	0
KIF4B	285643	broad.mit.edu	37	5	154395153	154395153	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:154395153G>T	ENST00000435029.4	+	1	1894	c.1734G>T	c.(1732-1734)ttG>ttT	p.L578F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	578					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.L578F(2)		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)			AGGAAGAATTGGTTCGTGAAC	0.423000													26	63					1.42536e-11	1.92961e-11	0.004656	1	0
ZNF746	155061	broad.mit.edu	37	7	149174757	149174757	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:149174757C>A	ENST00000340622.3	-	5	890	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	ZNF746_ENST00000458143.2_Missense_Mutation_p.V204L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	204					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.V204L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACGCCTCCACGCCCAGGGCC	0.672000													11	20					3.86212e-05	4.31295e-05	0.008291	1	0
DMBT1	1755	broad.mit.edu	37	10	124336238	124336238	+	Splice_Site	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr10:124336238G>A	ENST00000368909.3	+	7	713	c.607_splice	c.e7+1	p.A203_splice	DMBT1_ENST00000368956.2_Splice_Site_p.A203_splice|DMBT1_ENST00000330163.4_Splice_Site_p.A203_splice|DMBT1_ENST00000359586.6_Splice_Site_p.A203_splice|DMBT1_ENST00000344338.3_Splice_Site_p.A203_splice|DMBT1_ENST00000338354.3_Splice_Site_p.A203_splice|DMBT1_ENST00000368955.3_Splice_Site_p.A203_splice	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	203					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.A203T(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATCTGCTCAGGTAGGCATCC	0.562000													32	52					0	0	0.008361	0	0
RP1L1	94137	broad.mit.edu	37	8	10470400	10470400	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:10470400G>T	ENST00000382483.3	-	4	1431	c.1208C>A	c.(1207-1209)cCc>cAc	p.P403H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	403					intracellular signal transduction			p.P403H(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCATACTTGGGCCCTGGCTG	0.667000													30	50					7.26314e-15	1.08006e-14	0.007291	1	0
C2orf78	388960	broad.mit.edu	37	2	74043317	74043317	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:74043317T>A	ENST00000409561.1	+	3	2088	c.1967T>A	c.(1966-1968)cTg>cAg	p.L656Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	656								p.L656Q(1)|p.L626Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCAGGACCCTGGGAAGCTCA	0.507000													19	57					0	0	0.008871	0	0
GNRHR	2798	broad.mit.edu	37	4	68619639	68619639	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:68619639G>T	ENST00000226413.4	-	1	439	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.R139S	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R139S(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCCAGGGAGCGGTCCAGGCTG	0.517000													17	29					3.52763e-06	4.09891e-06	0.004990	1	0
SLC2A14	144195	broad.mit.edu	37	12	7984358	7984358	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:7984358G>T	ENST00000543909.1	-	9	942	c.183C>A	c.(181-183)atC>atA	p.I61I	SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000340749.5_Silent_p.I38I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Silent_p.I61I|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Silent_p.I76I|SLC2A14_ENST00000431042.2_Silent_p.I38I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.I61I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATTCCTTTATGATCTGCAAAA	0.443000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	58					3.52763e-06	4.09891e-06	0.004990	1	0
HRNR	388697	broad.mit.edu	37	1	152187540	152187540	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:152187540C>T	ENST00000368801.2	-	3	6640	c.6565G>A	c.(6565-6567)Ggg>Agg	p.G2189R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2189					keratinization		calcium ion binding|protein binding	p.G2189M(1)|p.G2189W(1)		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)			GAACCGGACCCATGTCGGCCG	0.647000													12	397					0	0	0.007291	0	0
DNAAF1	123872	broad.mit.edu	37	16	84199428	84199428	+	Silent	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:84199428T>A	ENST00000378553.5	+	7	1027	c.903T>A	c.(901-903)gcT>gcA	p.A301A	DNAAF1_ENST00000334315.5_Silent_p.A301A|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	301					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.A301A(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGTACGCAGCTGAAAAGGAGG	0.517000													57	73					0	0	0.003610	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99342458	99342458	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:99342458G>T	ENST00000408927.3	+	12	1466	c.1353G>T	c.(1351-1353)gtG>gtT	p.V451V	RAP1GDS1_ENST00000408900.3_Silent_p.V402V|RAP1GDS1_ENST00000453712.2_Silent_p.V451V|RAP1GDS1_ENST00000380158.4_Silent_p.V403V|RAP1GDS1_ENST00000339360.5_Silent_p.V452V|RAP1GDS1_ENST00000264572.7_Silent_p.V360V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	451							binding|GTPase activator activity	p.V451V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AGCGTTTGGTGGAATGGTGTG	0.433000			T	NUP98	T-ALL								23	30					6.44725e-10	8.41073e-10	0.002299	1	0
CASP5	838	broad.mit.edu	37	11	104879698	104879698	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:104879698C>T	ENST00000393141.2	-	2	87	c.56G>A	c.(55-57)gGc>gAc	p.G19D	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.G6D|CASP5_ENST00000526056.1_Missense_Mutation_p.G19D	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	6			K -> N (in dbSNP:rs45483102).		apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.G19D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTTTTTTGCCACTGTCTTC	0.388000													15	39					0	0	0.006122	0	0
FBLN2	2199	broad.mit.edu	37	3	13678060	13678060	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:13678060C>A	ENST00000404922.3	+	17	3449	c.3330C>A	c.(3328-3330)gtC>gtA	p.V1110V	FBLN2_ENST00000492059.1_Silent_p.V1110V|FBLN2_ENST00000295760.7_Silent_p.V1063V|FBLN2_ENST00000535798.1_Silent_p.V1089V	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1063	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.V1110V(1)|p.V529V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGTCCAAGTCTCCAAAACGT	0.597000													10	6					7.48243e-07	8.98518e-07	0.006214	1	0
MCM3	4172	broad.mit.edu	37	6	52143587	52143587	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:52143587C>T	ENST00000596288.1	-	6	994	c.967G>A	c.(967-969)Gct>Act	p.A323T	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A232T|MCM3_ENST00000229854.7_Missense_Mutation_p.A278T	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	278	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.A278T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ATATCCTCAGCAGAGAAAGAG	0.438000													41	19					0	0	0.010771	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529963	140529963	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:140529963C>A	ENST00000231136.1	+	1	125	c.125C>A	c.(124-126)aCg>aAg	p.T42K	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		42	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T42K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGTGGCACGTTTGTGGCC	0.502000													48	78					2.81731e-22	4.6738e-22	0.003610	1	0
SND1	27044	broad.mit.edu	37	7	127334986	127334986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:127334986G>T	ENST00000354725.3	+	3	527	c.333G>T	c.(331-333)atG>atT	p.M111I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	111	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.M111I(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGTATGGCATGATCTACCTTG	0.478000													19	70					5.35267e-07	6.50939e-07	0.007413	1	0
BLID	414899	broad.mit.edu	37	11	121986432	121986432	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:121986432G>T	ENST00000560104.1	-	1	491	c.199C>A	c.(199-201)Ctt>Att	p.L67I		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	67					apoptosis	mitochondrion		p.L67I(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		TACCTTTTAAGAGAAAGCACT	0.463000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	55					2.5377e-55	5.47608e-55	0.003610	1	0
ITGAX	3687	broad.mit.edu	37	16	31388320	31388320	+	Splice_Site	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:31388320G>T	ENST00000268296.4	+	22	2746		c.e22-1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTTTTCCTCAGATCACCTTCT	0.622000													16	81					1.5739e-10	2.09124e-10	0.004007	1	0
CAD	790	broad.mit.edu	37	2	27458430	27458430	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:27458430G>T	ENST00000264705.4	+	25	4158	c.3996G>T	c.(3994-3996)gtG>gtT	p.V1332V	CAD_ENST00000403525.1_Silent_p.V1269V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1332	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.V1332V(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCCCAACTGTGCGGCTACTGG	0.537000													39	71					2.00842e-17	3.14982e-17	0.010771	1	0
CHST5	23563	broad.mit.edu	37	16	75563159	75563159	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:75563159A>G	ENST00000336257.3	-	3	2518	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P	CHST5_ENST00000541075.1_Missense_Mutation_p.L381P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	375					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.L375P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAGCAGCTGCAGCGCGCCGGC	0.657000													23	22					0	0	0.003954	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532360	40532360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:40532360C>A	ENST00000297737.6	-	5	586	c.440G>T	c.(439-441)tGt>tTt	p.C147F	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	147						nucleus	DNA binding|zinc ion binding	p.C147F(1)		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)			ACAGAGCCCACAGTATCTGTC	0.498000													116	201					5.16181e-52	1.09736e-51	0.003610	1	0
OR51G2	81282	broad.mit.edu	37	11	4936863	4936863	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:4936863T>A	ENST00000322013.3	-	1	59	c.31A>T	c.(31-33)Agc>Tgc	p.S11C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S11C(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAACGCTGCTGCTGCTGTTT	0.542000													17	47					0	0	0.006122	0	0
CLVS2	134829	broad.mit.edu	37	6	123318960	123318960	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:123318960T>A	ENST00000275162.4	+	2	1373	c.38T>A	c.(37-39)cTg>cAg	p.L13Q	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	13					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.L13Q(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CCTGAGACCCTGGAGAAAGCT	0.537000													15	38					0	0	0.004007	0	0
RPTOR	57521	broad.mit.edu	37	17	78681705	78681705	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:78681705G>T	ENST00000306801.3	+	4	775	c.413G>T	c.(412-414)cGt>cTt	p.R138L	RPTOR_ENST00000570891.1_Missense_Mutation_p.R138L|RPTOR_ENST00000544334.2_Missense_Mutation_p.R138L|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	138					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.R138L(1)|p.R138H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACGTCCTTACGTCGCAACGCC	0.562000													21	28					1.00905e-13	1.44078e-13	0.008871	1	0
EPPK1	83481	broad.mit.edu	37	8	144947001	144947001	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:144947001C>T	ENST00000525985.1	-	2	492	c.421G>A	c.(421-423)Gtt>Att	p.V141I				P58107	EPIPL_HUMAN	epiplakin 1	141						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V141I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTCCACAACCTCCTTCCCG	0.682000													9	30					0	0	0.006214	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861876	94861876	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:94861876A>T	ENST00000278505.4	+	2	754	c.636A>T	c.(634-636)aaA>aaT	p.K212N		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	212						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	p.K212N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTAAAGACAAAGTGGCAGTCC	0.557000													22	31					0	0	0.012319	0	0
ENKD1	84080	broad.mit.edu	37	16	67698948	67698948	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:67698948C>T	ENST00000243878.4	-	3	725	c.404G>A	c.(403-405)cGc>cAc	p.R135H	ENKD1_ENST00000602644.1_Missense_Mutation_p.R135H|ENKD1_ENST00000602409.1_5'UTR	NM_032140.1	NP_115516.1			enkurin domain containing 1									p.R135H(1)									CTTGGGTGAGCGCCACAGAGC	0.597000													43	130					0	0	0.008740	0	0
ZNF467	168544	broad.mit.edu	37	7	149461930	149461930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:149461930C>A	ENST00000302017.3	-	5	2074	c.1661G>T	c.(1660-1662)cGc>cTc	p.R554L	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R554L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGTCTTGCGGCTGAAGCT	0.706000													26	24					1.08312e-15	1.63608e-15	0.009535	1	0
ANK2	287	broad.mit.edu	37	4	114117535	114117535	+	Missense_Mutation	SNP	C	C	A	rs146964054	byFrequency	TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:114117535C>A	ENST00000357077.4	+	3	251	c.198C>A	c.(196-198)aaC>aaA	p.N66K	ANK2_ENST00000264366.6_Missense_Mutation_p.N66K|ANK2_ENST00000394537.3_Missense_Mutation_p.N66K|ANK2_ENST00000506722.1_Missense_Mutation_p.N45K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	66					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.N66K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGACTCAACGCTCTCCATC	0.483000													13	31					4.3838e-07	5.35383e-07	0.001855	1	0
MIOS	54468	broad.mit.edu	37	7	7622753	7622753	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:7622753G>C	ENST00000340080.4	+	6	1819	c.1398G>C	c.(1396-1398)atG>atC	p.M466I	MIOS_ENST00000461907.2_3'UTR|MIOS_ENST00000405785.1_Missense_Mutation_p.M466I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	466								p.M466I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTAGGAATGGTGGAAAGCA	0.303000													20	80					0	0	0.007413	0	0
PSMD14	10213	broad.mit.edu	37	2	162224311	162224311	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:162224311G>A	ENST00000409682.3	+	5	841	c.137G>A	c.(136-138)cGt>cAt	p.R46H		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	46	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	p.R46H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						AAACATGGCCGTGCTGGAGTT	0.388000													21	32					0	0	0.012319	0	0
ZNF347	84671	broad.mit.edu	37	19	53645328	53645328	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:53645328C>T	ENST00000452676.2	-	5	1182	c.756G>A	c.(754-756)ggG>ggA	p.G252G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G251G|ZNF347_ENST00000601469.2_Silent_p.G252G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G251G(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTGCTTTTTGCCCCTGTGTGA	0.373000													4	165					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179477551	179477551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:179477551C>A	ENST00000589042.1	-	265	50121	c.49897G>T	c.(49897-49899)Gaa>Taa	p.E16633*	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7760*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E14065*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E14992*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E7568*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E7693*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14992	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E14065*(2)|p.E7693*(1)|p.E7568*(1)|p.E7760*(1)		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)			GGTTCACTTTCCCCAGCCTTA	0.502000													14	35					7.93312e-07	9.48669e-07	0.002450	1	0
RB1	5925	broad.mit.edu	37	13	49039189	49039189	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr13:49039189A>G	ENST00000267163.4	+	22	2405	c.2267A>G	c.(2266-2268)tAt>tGt	p.Y756C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	756	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.Y756C(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATAGTATTCTATAACTCGGTC	0.299000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			22	47					0	0	0.003954	0	0
EEPD1	80820	broad.mit.edu	37	7	36194118	36194118	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:36194118G>T	ENST00000242108.4	+	2	903	c.185G>T	c.(184-186)cGc>cTc	p.R62L	EEPD1_ENST00000534978.1_Missense_Mutation_p.R62L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	62	HhH.				DNA repair		DNA binding	p.R62L(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GCCGTGGCACGCAGCATCGTG	0.577000													226	67					1.5621e-98	3.4223e-98	0.003610	1	0
ABCF1	23	broad.mit.edu	37	6	30545863	30545863	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:30545863A>G	ENST00000326195.8	+	4	339	c.227A>G	c.(226-228)aAg>aGg	p.K76R	ABCF1_ENST00000396515.4_Missense_Mutation_p.K76R|ABCF1_ENST00000376545.3_Missense_Mutation_p.K76R	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	76					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	p.K76R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAAAAAAAAAAGCGAGATACC	0.493000													29	68					0	0	0.006320	0	0
OR10J3	441911	broad.mit.edu	37	1	159283997	159283997	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:159283997C>A	ENST00000332217.5	-	1	452	c.453G>T	c.(451-453)ggG>ggT	p.G151G		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CAAGGCCAATCCCCAGTGATC	0.512000													55	36					3.13117e-07	3.85685e-07	0.003610	1	0
DSC3	1825	broad.mit.edu	37	18	28598198	28598198	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr18:28598198C>T	ENST00000434452.1	-	9	1256	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	DSC3_ENST00000360428.4_Missense_Mutation_p.A368T	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	368	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.A368T(2)		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)			ACATTGAATGCATTTTCCTCT	0.279000													16	28					0	0	0.004990	0	0
GMPS	8833	broad.mit.edu	37	3	155649570	155649570	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:155649570A>G	ENST00000496455.1	+	13	1912	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	GMPS_ENST00000295920.7_Missense_Mutation_p.Y427C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	526					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.Y526C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGTCGTTCCTACAGTTACGTG	0.343000			T	MLL	AML								64	116					0	0	0.003610	0	0
MDGA1	266727	broad.mit.edu	37	6	37605236	37605236	+	Splice_Site	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:37605236C>A	ENST00000434837.2	-	17	3955		c.e17-1		MDGA1_ENST00000297153.7_Splice_Site	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1						brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.?(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATCACCACCACTGCAACAGGG	0.632000													30	16					4.31634e-10	5.65657e-10	0.012213	1	0
MTL5	9633	broad.mit.edu	37	11	68514791	68514791	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:68514791G>T	ENST00000443940.2	-	3	601	c.515C>A	c.(514-516)cCg>cAg	p.P172Q	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P172Q|MTL5_ENST00000255087.5_Missense_Mutation_p.P172Q			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	172					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	p.P172Q(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGCTTCTTCCGGATTATTACT	0.423000													4	63					0.00909568	0.00988811	0.009096	1	0
SALL1	6299	broad.mit.edu	37	16	51174869	51174869	+	Silent	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:51174869A>G	ENST00000440970.1	-	2	1404	c.973T>C	c.(973-975)Ttg>Ctg	p.L325L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.L422L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	422					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L422L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTGGGCCAAGGCAGACAAG	0.493000													93	92					0	0	0.003610	0	0
ZRANB3	84083	broad.mit.edu	37	2	136107556	136107556	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:136107556C>T	ENST00000401392.1	-	5	801	c.589G>A	c.(589-591)Gag>Aag	p.E197K	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E197K|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E197K			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	197	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.E197K(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTAATACCTCTTCAGGCCTT	0.408000													30	40					0	0	0.004878	0	0
ZNF443	10224	broad.mit.edu	37	19	12542605	12542605	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:12542605C>T	ENST00000301547.5	-	4	578	c.381G>A	c.(379-381)ggG>ggA	p.G127G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	127					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G127G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTGGTTTGTGCCCAGCACCAA	0.433000													4	78					0	0	0.009096	0	0
FER1L6	654463	broad.mit.edu	37	8	125025722	125025722	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:125025722C>A	ENST00000522917.1	+	15	2079	c.1873C>A	c.(1873-1875)Cct>Act	p.P625T	FER1L6_ENST00000399018.1_Missense_Mutation_p.P625T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	625						integral to membrane		p.P625N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGGAGGCACCTGAAGAGAA	0.488000													26	47					1.55811e-20	2.4982e-20	0.008361	1	0
PREX1	57580	broad.mit.edu	37	20	47273634	47273634	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr20:47273634G>T	ENST00000396220.1	-	18	2089	c.2067C>A	c.(2065-2067)aaC>aaA	p.N689K	PREX1_ENST00000371941.3_Missense_Mutation_p.N689K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	689	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.N689K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGAAGGACTGGTTGAGGATGG	0.642000													8	8					0.00307968	0.00336071	0.003080	1	0
TRIM39	56658	broad.mit.edu	37	6	30297471	30297471	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:30297471G>C	ENST00000376659.5	+	3	975	c.377G>C	c.(376-378)tGc>tCc	p.C126S	TRIM39_ENST00000540416.1_Missense_Mutation_p.C126S|TRIM39_ENST00000376656.4_Missense_Mutation_p.C126S|TRIM39_ENST00000396551.3_Missense_Mutation_p.C126S|TRIM39_ENST00000396547.1_Missense_Mutation_p.C126S|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.C38S|TRIM39_ENST00000396548.1_Missense_Mutation_p.C126S	NM_172016.2	NP_742013.1			tripartite motif containing 39									p.C126S(1)		ovary(3)	3						GAGGCTGTATGCTTGATATGT	0.577000													55	23					0	0	0.003610	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801564	140801564	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:140801564G>T	ENST00000398587.2	+	1	803	c.770G>T	c.(769-771)aGc>aTc	p.S257I	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.S257I|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.S257I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACATCAGCTCCGGAACT	0.483000													65	138					1.02487e-32	1.94793e-32	0.003610	1	0
MYO7B	4648	broad.mit.edu	37	2	128347777	128347777	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:128347777C>A	ENST00000389524.4	+	16	2018	c.1965C>A	c.(1963-1965)atC>atA	p.I655I	MYO7B_ENST00000409816.2_Silent_p.I655I|MYO7B_ENST00000428314.1_Silent_p.I655I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	655	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.I655I(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCGCTGCATCAAACCTAATG	0.532000													19	28					2.32416e-17	3.62518e-17	0.002299	1	0
FOLR3	2352	broad.mit.edu	37	11	71847143	71847143	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:71847143C>A	ENST00000445078.2	+	2	210	c.139C>A	c.(139-141)Ccc>Acc	p.P47T	FOLR3_ENST00000456237.1_Missense_Mutation_p.P49T|FOLR3_ENST00000442948.2_Missense_Mutation_p.P49T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	47					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.P49T(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACAGCCCAGCCCCGAGGACGA	0.642000													62	114					5.98616e-33	1.14535e-32	0.003610	1	0
RIMS2	9699	broad.mit.edu	37	8	104898392	104898392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:104898392C>A	ENST00000507740.1	+	2	1225	c.989C>A	c.(988-990)aCg>aAg	p.T330K	RIMS2_ENST00000436393.2_Missense_Mutation_p.T300K|RIMS2_ENST00000406091.3_Missense_Mutation_p.T522K|RIMS2_ENST00000262231.10_Missense_Mutation_p.T330K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	553					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.T330K(2)|p.T558K(1)|p.T300K(1)|p.T522K(1)		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)			TTGGCTTCCACGCCTGAATAT	0.403000										HNSCC(12;0.0054)			8	25					1.76689e-08	2.2144e-08	0.006214	1	0
SLC25A12	8604	broad.mit.edu	37	2	172666787	172666787	+	Splice_Site	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:172666787C>A	ENST00000422440.2	-	12	1209		c.e12-1		SLC25A12_ENST00000392592.4_Splice_Site	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12						gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GGTATCAGACCTAGGTAAAGG	0.378000													45	62					1.62263e-30	3.02398e-30	0.003610	1	0
C11orf74	119710	broad.mit.edu	37	11	36669586	36669586	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:36669586G>A	ENST00000446510.2	+	5	478	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	C11orf74_ENST00000534635.1_Missense_Mutation_p.E53K|C11orf74_ENST00000347206.4_Missense_Mutation_p.E53K|C11orf74_ENST00000334307.5_Missense_Mutation_p.E127K			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	127								p.E127K(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GCTTCCAGGAGAAGTGGAGCA	0.443000													59	157					0	0	0.003610	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697597	17697597	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:17697597C>A	ENST00000399080.2	-	1	2109	c.2086G>T	c.(2086-2088)Gac>Tac	p.D696Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	696								p.D696Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATCCATGTCATCAAAGTCC	0.303000													32	57					2.81731e-10	3.72612e-10	0.010818	1	0
PSG2	5670	broad.mit.edu	37	19	43579616	43579616	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:43579616C>A	ENST00000406487.1	-	3	697	c.599G>T	c.(598-600)aGg>aTg	p.R200M		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	200	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.R200M(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AAAGAGGGTCCTGTTGGTTTC	0.507000													232	322					4.32306e-105	9.54399e-105	0.003610	1	0
NUP188	23511	broad.mit.edu	37	9	131745599	131745599	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr9:131745599G>A	ENST00000372577.2	+	18	1845	c.1824G>A	c.(1822-1824)gtG>gtA	p.V608V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	608					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.V608V(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCCCACCTGTGGATGTCATTG	0.438000													52	137					0	0	0.003610	0	0
GABRA2	2555	broad.mit.edu	37	4	46307719	46307719	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:46307719G>T	ENST00000510861.1	-	7	742	c.569C>A	c.(568-570)aCa>aAa	p.T190K	GABRA2_ENST00000507069.1_Missense_Mutation_p.T190K|GABRA2_ENST00000515082.1_Missense_Mutation_p.T190K|GABRA2_ENST00000514090.1_Missense_Mutation_p.T190K|GABRA2_ENST00000540012.1_Missense_Mutation_p.T135K|GABRA2_ENST00000356504.1_Missense_Mutation_p.T190K|GABRA2_ENST00000381620.4_Missense_Mutation_p.T190K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	190					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T190K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCTGAAGTTGTATATGCATC	0.363000													22	21					8.10497e-08	1.00698e-07	0.010504	1	0
OR2G3	81469	broad.mit.edu	37	1	247769300	247769300	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:247769300C>T	ENST00000320002.2	+	1	445	c.413C>T	c.(412-414)cCa>cTa	p.P138L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P138L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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;0.017)			ATCATGAACCCACGGCTTTGC	0.512000													147	97					0	0	0.003610	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832238	24832238	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr10:24832238C>G	ENST00000376451.2	+	14	3348	c.3088C>G	c.(3088-3090)Caa>Gaa	p.Q1030E	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.Q1347E|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1347					embryonic skeletal system development	cytoplasm		p.Q1347E(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGATTTTGGCCAAGTTGTTCT	0.433000													50	84					0	0	0.003610	0	0
CAPN6	827	broad.mit.edu	37	X	110496280	110496280	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chrX:110496280G>T	ENST00000324068.1	-	4	629	c.462C>A	c.(460-462)tcC>tcA	p.S154S	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	154	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.S154S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTCATTCATGGAAGTGGAGA	0.433000													40	13					1.47244e-24	2.51543e-24	0.006230	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966128	88966128	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:88966128C>A	ENST00000333190.4	+	4	4441	c.3832C>A	c.(3832-3834)Cca>Aca	p.P1278T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1278						intracellular	zinc ion binding	p.P1278T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCCTTCCACCCATCTCACAT	0.463000										HNSCC(36;0.09)			52	155					1.91693e-13	2.71014e-13	0.003610	1	0
JUP	3728	broad.mit.edu	37	17	39778674	39778674	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:39778674G>T	ENST00000540235.1	-	6	1081	c.1082C>A	c.(1081-1083)gCc>gAc	p.A361D	KRT17_ENST00000311208.8_Missense_Mutation_p.A202D			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.A202D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCCAGGTCGGCTCTGGCCAG	0.607000													57	109					1.80625e-27	3.21984e-27	0.003610	1	0
ACTG2	72	broad.mit.edu	37	2	74128468	74128468	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:74128468G>T	ENST00000409624.1	+	3	673	c.30G>T	c.(28-30)gtG>gtT	p.V10V	ACTG2_ENST00000409918.1_Silent_p.V10V|ACTG2_ENST00000345517.3_Silent_p.V10V|ACTG2_ENST00000409731.3_Silent_p.V10V			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	10					muscle contraction	cytoskeleton|cytosol	ATP binding	p.V10V(1)		large_intestine(3)|lung(14)|skin(1)	18						CCGCGCTCGTGTGTGACAATG	0.622000													17	33					2.48551e-13	3.49676e-13	0.004990	1	0
CDH10	1008	broad.mit.edu	37	5	24537633	24537633	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:24537633G>T	ENST00000264463.4	-	3	889	c.382C>A	c.(382-384)Cgc>Agc	p.R128S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R128S(1)|p.R128C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTTGTGCGCGTAGAGTATAA	0.413000										HNSCC(23;0.051)			51	108					6.3237e-29	1.14867e-28	0.003610	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724679	38724679	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:38724679G>A	ENST00000342213.2	-	1	895	c.549C>T	c.(547-549)cgC>cgT	p.R183R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	183						integral to membrane	sugar binding	p.R183R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		cggccccggggcgcggcgcAG	0.667000													37	53					0	0	0.010771	0	0
HMCN1	83872	broad.mit.edu	37	1	186026523	186026523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:186026523G>T	ENST00000271588.4	+	46	7531	c.7302G>T	c.(7300-7302)agG>agT	p.R2434S	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2434S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2434	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R2434S(1)		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						ATTCTGTGAGGATTCTTTCAG	0.393000													61	46					1.84395e-34	3.57577e-34	0.003610	1	0
ZP4	57829	broad.mit.edu	37	1	238048146	238048146	+	Splice_Site	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:238048146A>T	ENST00000366570.4	-	10	1471	c.1311_splice	c.e10-1	p.V438_splice	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	438	ZP.				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	p.V438E(1)		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)			GTGCAGATGCACCTGGGAGCC	0.512000													4	32					0	0	0.000602	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253859	81253859	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:81253859G>A	ENST00000599697.1	-	1	116	c.117C>T	c.(115-117)tgC>tgT	p.C39C	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	39	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.C39C(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAAATTCATAGCAAGCATCTC	0.562000													49	41					0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154396937	154396937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:154396937G>T	ENST00000435029.4	+	1	3678	c.3518G>T	c.(3517-3519)tGt>tTt	p.C1173F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1173	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.C1173F(2)		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)			AAAGAGATGTGTGACATGGAG	0.507000													22	60					8.10497e-08	1.00698e-07	0.010504	1	0
NUAK1	9891	broad.mit.edu	37	12	106477704	106477704	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:106477704C>A	ENST00000261402.2	-	4	1896	c.517G>T	c.(517-519)Ggt>Tgt	p.G173C		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	173	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G173C(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGACCACACCGTTCTGAAAT	0.488000													110	24					1.89039e-43	3.93146e-43	0.003610	1	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			36	18					2.52637e-11	3.40408e-11	0.005524	1	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717248	39717248	+	Silent	SNP	T	T	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:39717248T>C	ENST00000553728.1	+	4	1683	c.1470T>C	c.(1468-1470)aaT>aaC	p.N490N	MIA2_ENST00000280082.3_Silent_p.N490N|MIA2_ENST00000556784.1_Silent_p.N489N														p.N490N(1)									ATCAAAATAATGTAATTGAAA	0.313000													55	86					0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117185778	117185778	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr10:117185778C>T	ENST00000355044.3	+	21	3414	c.3288C>T	c.(3286-3288)cgC>cgT	p.R1096R	ATRNL1_ENST00000423111.2_Silent_p.R147R|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1096	Laminin EGF-like 2.					integral to membrane	sugar binding	p.R1096R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGAAAATCGCTATGTTGGTA	0.284000													45	74					0	0	0.003610	0	0
PLCB2	5330	broad.mit.edu	37	15	40594168	40594168	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr15:40594168G>A	ENST00000260402.3	-	7	821	c.572C>T	c.(571-573)cCc>cTc	p.P191L	PLCB2_ENST00000543785.2_Missense_Mutation_p.P191L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P191L|PLCB2_ENST00000557821.1_Missense_Mutation_p.P191L	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	191					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P191L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTTGCCTTTGGGGAGGTGGCA	0.582000													23	39					0	0	0.004656	0	0
KAZN	23254	broad.mit.edu	37	1	14925597	14925597	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:14925597G>A	ENST00000376030.2	+	1	398	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	KAZN_ENST00000422387.2_Missense_Mutation_p.R35Q|KAZN_ENST00000503743.1_Missense_Mutation_p.R35Q	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	35					keratinization	cornified envelope|cytoplasm|desmosome|nucleus		p.R35Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCCACCAACCGGAGACTGGCG	0.731000													3	51					0	0	0.004672	0	0
GREB1	9687	broad.mit.edu	37	2	11738806	11738806	+	Splice_Site	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:11738806G>A	ENST00000381486.2	+	15	2453	c.2152_splice	c.e15-1	p.G718_splice	GREB1_ENST00000234142.5_Splice_Site_p.G718_splice	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	718						integral to membrane		p.G718E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGTGTTGCAGGGGTTTTGCTG	0.483000													53	96					0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48411995	48411995	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:48411995G>T	ENST00000435803.1	+	33	11058	c.11034G>T	c.(11032-11034)gcG>gcT	p.A3678A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3678					transport	integral to membrane	ATP binding|ATPase activity	p.A3678A(1)|p.A3623A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTAATACAGCGGCCCTTTGTA	0.413000													104	333					1.04275e-50	2.2005e-50	0.003610	1	0
TCP11	6954	broad.mit.edu	37	6	35090040	35090040	+	Missense_Mutation	SNP	C	C	A	rs142915532	byFrequency	TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:35090040C>A	ENST00000311875.5	-	5	888	c.471G>T	c.(469-471)ttG>ttT	p.L157F	TCP11_ENST00000373974.4_Missense_Mutation_p.L111F|TCP11_ENST00000412155.2_Missense_Mutation_p.L106F|TCP11_ENST00000244645.3_Missense_Mutation_p.L82F|TCP11_ENST00000418521.2_Missense_Mutation_p.L81F|TCP11_ENST00000444780.2_Missense_Mutation_p.L152F|TCP11_ENST00000512012.1_Missense_Mutation_p.L144F|TCP11_ENST00000373979.2_Missense_Mutation_p.L82F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	144					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.L157F(1)|p.L82F(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCTGCTTGAGCAAGTCCATGT	0.488000													68	36					2.26907e-38	4.52238e-38	0.003610	1	0
IGHV1-46	28465	broad.mit.edu	37	14	106967177	106967177	+	RNA	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:106967177C>A	ENST00000390622.2	-	0	526																											CTTGTGCTACCACCACTAGGG	0.547000													95	144					2.36867e-37	4.68833e-37	0.003610	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145075718	145075718	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:145075718G>A	ENST00000369359.4	-	1	183	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R49W|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R49W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R49W			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0			I -> T (in dbSNP:rs573724).		cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R49W(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGTCTTTCCCGGCTCGGGGTC	0.716000			T	PDGFRB	MPD								36	108					0	0	0.003755	0	0
TDRD6	221400	broad.mit.edu	37	6	46658781	46658781	+	Silent	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:46658781A>T	ENST00000544460.1	+	1	3170	c.2916A>T	c.(2914-2916)ctA>ctT	p.L972L	TDRD6_ENST00000316081.6_Silent_p.L972L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	972					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.L972L(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTGTTCAGCTACATTCCTACT	0.388000													40	18					0	0	0.010771	0	0
MYCBP2	23077	broad.mit.edu	37	13	77631213	77631213	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr13:77631213T>C	ENST00000407578.2	-	79	13611	c.13345A>G	c.(13345-13347)Ata>Gta	p.I4449V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I4411V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I4411V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.I4449V(1)|p.I4411V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAGTGGAATATGTGACTACAA	0.363000													39	87					0	0	0.006230	0	0
PTPRD	5789	broad.mit.edu	37	9	8636710	8636710	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr9:8636710G>C	ENST00000381196.4	-	10	742	c.199C>G	c.(199-201)Cag>Gag	p.Q67E	PTPRD_ENST00000360074.4_Missense_Mutation_p.Q67E|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q67E|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q67E|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q67E|PTPRD_ENST00000463477.1_Missense_Mutation_p.Q67E|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q67E|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q67E|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q67E|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q67E|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q67E|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q67E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	67	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q67E(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCAAATCTCTGATTGCTGACT	0.443000										TSP Lung(15;0.13)			26	69					0	0	0.003954	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75898471	75898471	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:75898471G>A	ENST00000262207.4	+	2	717	c.249G>A	c.(247-249)atG>atA	p.M83I	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	83						extracellular region		p.M83I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CCTCTAATATGGAGTATATGG	0.358000													51	46					0	0	0.003610	0	0
DENND2A	27147	broad.mit.edu	37	7	140301269	140301269	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:140301269G>C	ENST00000275884.6	-	2	1346	c.929C>G	c.(928-930)tCt>tGt	p.S310C	DENND2A_ENST00000492720.1_Missense_Mutation_p.S310C|DENND2A_ENST00000537639.1_Missense_Mutation_p.S310C|DENND2A_ENST00000496613.1_Missense_Mutation_p.S310C			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	310								p.S310C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					aggtgggggagaggagggcag	0.592000													28	39					0	0	0.003271	0	0
LTB4R	1241	broad.mit.edu	37	14	24785218	24785218	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:24785218C>A	ENST00000396789.4	+	2	2086	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	LTB4R_ENST00000396782.2_Missense_Mutation_p.R121S|LTB4R_ENST00000345363.3_Missense_Mutation_p.R121S	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	121					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	p.R121S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GGCGGTGGCCCGCCCCTTTGT	0.642000													15	33					3.45872e-05	3.89275e-05	0.004007	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128862046	128862046	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:128862046C>A	ENST00000274487.4	+	4	1110	c.965C>A	c.(964-966)cCt>cAt	p.P322H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	322					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P322H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TACAAATTACCTCAAGAATAC	0.388000													7	61					0.00198382	0.00218144	0.001984	1	0
KCNMA1	3778	broad.mit.edu	37	10	78771774	78771774	+	Silent	SNP	A	A	G	rs146803262		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr10:78771774A>G	ENST00000286627.5	-	18	2995	c.2043T>C	c.(2041-2043)caT>caC	p.H681H	KCNMA1_ENST00000404771.3_Silent_p.H681H|KCNMA1_ENST00000354353.5_Silent_p.H681H|KCNMA1_ENST00000404857.1_Silent_p.H681H|KCNMA1_ENST00000372443.1_Silent_p.H681H|KCNMA1_ENST00000286628.8_Silent_p.H681H|KCNMA1_ENST00000372440.1_Silent_p.H681H|KCNMA1_ENST00000406533.3_Silent_p.H685H	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	681	Heme-binding motif.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.H685H(1)|p.H681H(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGATGTCATCATGACAGGCCT	0.428000													35	61					0	0	0.003755	0	0
ABCC11	85320	broad.mit.edu	37	16	48210987	48210987	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:48210987G>A	ENST00000394747.1	-	24	3735	c.3386C>T	c.(3385-3387)aCa>aTa	p.T1129I	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1129I|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1129I|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1129I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1129						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T1129I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGACAACTTGTGCCTTCCAT	0.463000													24	15					0	0	0.004656	0	0
JPH4	84502	broad.mit.edu	37	14	24045665	24045665	+	Splice_Site	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:24045665C>T	ENST00000397118.3	-	4	1282	c.379_splice	c.e4-1	p.G127_splice	JPH4_ENST00000356300.4_Splice_Site_p.G127_splice	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	127					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.G127D(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGTAGGTGCCTGCGGGCGG	0.731000													3	5					0	0	0.004672	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596333	70596333	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:70596333C>T	ENST00000310613.2	-	7	961	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	222					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.D222N(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGATCCTATCCAAGATCTCA	0.373000													19	20					0	0	0.008871	0	0
MYH14	79784	broad.mit.edu	37	19	50735303	50735303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:50735303G>T	ENST00000440075.2	+	10	1137	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	MYH14_ENST00000425460.1_Nonsense_Mutation_p.G364*|MYH14_ENST00000376970.2_Nonsense_Mutation_p.G356*|MYH14_ENST00000601313.1_Nonsense_Mutation_p.G364*|MYH14_ENST00000598205.1_Nonsense_Mutation_p.G364*|MYH14_ENST00000596571.1_Nonsense_Mutation_p.G356*|MYH14_ENST00000262269.8_Nonsense_Mutation_p.G364*			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	356	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G356*(1)|p.G364*(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGGTCCTGGGATTCAGCCA	0.662000													26	35					1.33986e-20	2.16034e-20	0.004656	1	0
GRIP1	23426	broad.mit.edu	37	12	66765685	66765685	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:66765685G>T	ENST00000359742.4	-	23	3041	c.2801C>A	c.(2800-2802)aCg>aAg	p.T934K	GRIP1_ENST00000286445.7_Missense_Mutation_p.T919K|GRIP1_ENST00000398016.3_Missense_Mutation_p.T882K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	934					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.T882K(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAAACTCATCGTGCTCCCCGA	0.512000													84	30					8.2577e-42	1.69283e-41	0.003610	1	0
WDR33	55339	broad.mit.edu	37	2	128477085	128477085	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:128477085C>A	ENST00000322313.4	-	16	2672	c.2514G>T	c.(2512-2514)ggG>ggT	p.G838G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	838					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.G838G(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGTGGAGGCCCCTGCATGC	0.627000													22	31					2.70639e-06	3.18334e-06	0.002299	1	0
FGD2	221472	broad.mit.edu	37	6	36976674	36976674	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:36976674C>A	ENST00000274963.8	+	2	304	c.133C>A	c.(133-135)Cct>Act	p.P45T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	45					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P45T(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGAGTGCAGGCCTCCCGAGTC	0.632000													39	24					5.04308e-16	7.69874e-16	0.006230	1	0
OR10X1	128367	broad.mit.edu	37	1	158549146	158549146	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:158549146C>A	ENST00000368150.1	-	1	543	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D182Y(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAGAAAGAGTCCCTGAATATC	0.438000													51	38					1.81118e-26	3.2087e-26	0.003610	1	0
TBPL2	387332	broad.mit.edu	37	14	55907125	55907125	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:55907125A>T	ENST00000247219.5	-	1	209	c.139T>A	c.(139-141)Tgc>Agc	p.C47S		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	47					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	p.C47S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TGAGCGGCGCACTGGTCCAGG	0.632000													31	55					0	0	0.010818	0	0
PPEF2	5470	broad.mit.edu	37	4	76781857	76781857	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:76781857G>A	ENST00000286719.7	-	17	2581	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	742					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.A742V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTGTCTTTAGCATTTGTAGC	0.517000													12	20					0	0	0.010729	0	0
GBP4	115361	broad.mit.edu	37	1	89658733	89658733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:89658733G>T	ENST00000355754.6	-	5	621	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	175						cytoplasm	GTP binding|GTPase activity	p.P175H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGCTTCATCAGGTCTGGGGCA	0.478000													22	71					2.89027e-11	3.8762e-11	0.002299	1	0
PPME1	51400	broad.mit.edu	37	11	73950231	73950231	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:73950231T>A	ENST00000328257.8	+	9	1087	c.764T>A	c.(763-765)aTa>aAa	p.I255K	PPME1_ENST00000398427.4_Missense_Mutation_p.I255K|PPME1_ENST00000543525.1_Missense_Mutation_p.I68K|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	255					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	p.I255K(1)		endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GAAGGAATCATAGAGGAAGAA	0.368000													18	36					0	0	0.007413	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33614470	33614470	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:33614470C>A	ENST00000504830.1	-	16	2735	c.2400G>T	c.(2398-2400)caG>caT	p.Q800H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q715H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	800	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q800H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTTAGTCACCTGGAATAGAA	0.438000										HNSCC(64;0.19)			15	25					7.05477e-17	1.08856e-16	0.004990	1	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144371	35144371	+	RNA	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:35144371G>T	ENST00000436258.1	-	0	1695																											TGTGTGAAAAGCCAGCTATAA	0.308000													19	55					6.94344e-10	9.01705e-10	0.006122	1	0
OR5L2	26338	broad.mit.edu	37	11	55595361	55595361	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:55595361A>G	ENST00000378397.1	+	1	667	c.667A>G	c.(667-669)Acc>Gcc	p.T223A		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T223A(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTAATTCTCACCACTATCCT	0.498000										HNSCC(27;0.073)			52	91					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31323074	31323074	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:31323074A>G	ENST00000265071.2	+	12	2297	c.2032A>G	c.(2032-2034)Agg>Ggg	p.R678G		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	678					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R678G(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGCACCCTGAGGAATCCTGA	0.502000													4	74					0	0	0.009096	0	0
TOP2A	7153	broad.mit.edu	37	17	38560655	38560655	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:38560655T>A	ENST00000423485.1	-	18	2293	c.2135A>T	c.(2134-2136)gAg>gTg	p.E712V		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	712					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.E712V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GATAGATCTCTCGTTATCAGA	0.343000													40	74					0	0	0.006999	0	0
TLK1	9874	broad.mit.edu	37	2	171867901	171867901	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:171867901G>T	ENST00000442919.2	-	14	1869	c.1254C>A	c.(1252-1254)ggC>ggA	p.G418G	TLK1_ENST00000360843.3_Silent_p.G487G|TLK1_ENST00000434911.2_Silent_p.G370G|TLK1_ENST00000431350.2_Silent_p.G466G|TLK1_ENST00000521943.1_Silent_p.G418G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	466					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G418G(1)|p.G466G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCACTAAAGCCACCTCTAC	0.333000													14	56					2.23348e-06	2.6379e-06	0.004007	1	0
SGOL2	151246	broad.mit.edu	37	2	201438669	201438669	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:201438669A>T	ENST00000357799.4	+	7	3698	c.3600A>T	c.(3598-3600)aaA>aaT	p.K1200N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1200					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.K1200N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAATTTAAAGTCAACCGGA	0.318000													34	45					0	0	0.010818	0	0
HCN1	348980	broad.mit.edu	37	5	45262155	45262155	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:45262155C>A	ENST00000303230.4	-	8	2598	c.2541G>T	c.(2539-2541)tcG>tcT	p.S847S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	847						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.S847S(1)		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						GGATGGCTCCCGACGACATCT	0.647000													36	81					1.47197e-15	2.21181e-15	0.007835	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678663	37678663	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr13:37678663G>T	ENST00000379800.3	-	1	1140	c.731C>A	c.(730-732)cCt>cAt	p.P244H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	244	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.P244H(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AACTTCAACAGGGGTGGACAT	0.418000													45	28					1.76056e-25	3.0623e-25	0.011902	1	0
ITGAM	3684	broad.mit.edu	37	16	31284711	31284711	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:31284711G>A	ENST00000544665.3	+	8	801	c.730G>A	c.(730-732)Gga>Aga	p.G244R	ITGAM_ENST00000287497.8_Missense_Mutation_p.G244R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	244	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G244R(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CATCACCAACGGAGCCCGAAA	0.428000													54	65					0	0	0.003610	0	0
STC2	8614	broad.mit.edu	37	5	172755182	172755182	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:172755182C>A	ENST00000265087.4	-	1	1324	c.15G>T	c.(13-15)cgG>cgT	p.R5R		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	5					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	p.R5R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTGGCCCAGCCGCTCGGCAC	0.632000													57	106					1.45723e-30	2.73349e-30	0.003610	1	0
VWF	7450	broad.mit.edu	37	12	6085325	6085325	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:6085325G>A	ENST00000261405.5	-	43	7643	c.7389C>T	c.(7387-7389)ctC>ctT	p.L2463L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2463	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.L2463L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCCACGCGGAGGCCCATCA	0.642000													17	83					0	0	0.006122	0	0
MAP3K3	4215	broad.mit.edu	37	17	61767648	61767648	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:61767648G>T	ENST00000361357.3	+	13	1499	c.1181G>T	c.(1180-1182)cGc>cTc	p.R394L	MAP3K3_ENST00000584573.1_Missense_Mutation_p.R390L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R394L|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R359L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R363L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	363	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R363L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ATCAACTGGCGCCGGGGAAAG	0.517000													55	90					8.28887e-21	1.35165e-20	0.003610	1	0
NAV3	89795	broad.mit.edu	37	12	78574707	78574707	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:78574707C>A	ENST00000397909.2	+	30	5747	c.5574C>A	c.(5572-5574)aaC>aaA	p.N1858K	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.N1836K|NAV3_ENST00000266692.7_Missense_Mutation_p.N1659K|NAV3_ENST00000536525.2_Missense_Mutation_p.N1836K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1858						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.N1836K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAACTGGTAACACAGCTAAGC	0.408000										HNSCC(70;0.22)			62	12					2.40265e-35	4.69089e-35	0.003610	1	0
THSD7B	80731	broad.mit.edu	37	2	137928486	137928486	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:137928486G>T	ENST00000409968.1	+	7	1879	c.1701G>T	c.(1699-1701)aaG>aaT	p.K567N	THSD7B_ENST00000413152.2_Missense_Mutation_p.K536N|THSD7B_ENST00000272643.3_Missense_Mutation_p.K567N|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.K567N(1)|p.K536N(1)		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)		GTATTCTGAAGGCCGTCTGCC	0.493000													16	31					2.23348e-06	2.6379e-06	0.004007	1	0
COL9A3	1299	broad.mit.edu	37	20	61468487	61468487	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr20:61468487C>T	ENST00000343916.3	+	30	1659	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	552	Triple-helical region 2 (COL2).				axon guidance	collagen type IX		p.S552S(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CACCCGGGTCCATTGGTCGGC	0.632000													36	476					0	0	0.005524	0	0
INO80C	125476	broad.mit.edu	37	18	33048628	33048628	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr18:33048628C>A	ENST00000334598.7	-	5	642	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000592173.1_Intron|INO80C_ENST00000586489.1_Missense_Mutation_p.D121Y|INO80C_ENST00000441607.2_Missense_Mutation_p.D212Y|INO80C_ENST00000590757.1_Missense_Mutation_p.D79Y	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	176					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		p.D176Y(1)		central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GTGACGACGTCAGAGGGCAGC	0.557000													81	161					1.51503e-27	2.71759e-27	0.003610	1	0
PCLO	27445	broad.mit.edu	37	7	82387975	82387975	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:82387975G>T	ENST00000333891.8	-	25	15682	c.15345C>A	c.(15343-15345)gcC>gcA	p.A5115A		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5038					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A5115A(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCAGATACAGGCTTCACCAA	0.343000													88	86					6.16549e-39	1.23741e-38	0.003610	1	0
TMTC1	83857	broad.mit.edu	37	12	29908673	29908673	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:29908673G>T	ENST00000256062.5	-	4	849	c.376C>A	c.(376-378)Ctc>Atc	p.L126I	TMTC1_ENST00000539277.1_Missense_Mutation_p.L234I|TMTC1_ENST00000551659.1_Missense_Mutation_p.L234I|TMTC1_ENST00000552618.1_Missense_Mutation_p.L234I|TMTC1_ENST00000381224.2_Missense_Mutation_p.L126I	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	234						integral to membrane	binding	p.L126I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGGGAAAAGAGGTCATAAACC	0.433000													46	13					3.21987e-24	5.46807e-24	0.003610	1	0
OR56A3	390083	broad.mit.edu	37	11	5968810	5968810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:5968810C>A	ENST00000329564.6	+	1	241	c.234C>A	c.(232-234)tgC>tgA	p.C78*		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C78*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGTGCTCTGCCTCACTGTCA	0.572000													78	127					1.15098e-32	2.17323e-32	0.003610	1	0
OR5W2	390148	broad.mit.edu	37	11	55681357	55681357	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:55681357C>A	ENST00000344514.1	-	1	701	c.702G>T	c.(700-702)agG>agT	p.R234S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCTTTGAACCTCCCCTCAG	0.418000													37	55					6.53348e-20	1.03597e-19	0.003755	1	0
BRINP3	339479	broad.mit.edu	37	1	190067405	190067405	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:190067405C>G	ENST00000367462.3	-	8	2275	c.2044G>C	c.(2044-2046)Gac>Cac	p.D682H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D580H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		682						extracellular region		p.D682H(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATCAGGTCCCGAATTGCT	0.458000													28	108					0	0	0.007291	0	0
PRSS58	136541	broad.mit.edu	37	7	141952343	141952343	+	Silent	SNP	C	C	T	rs150069777		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:141952343C>T	ENST00000552471.1	-	4	844	c.525G>A	c.(523-525)acG>acA	p.T175T	PRSS58_ENST00000547058.2_Silent_p.T175T			Q8IYP2	PRS58_HUMAN	protease, serine, 58	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.T175T(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCATATTTTCCGTGATGTTGT	0.433000													24	92					0	0	0.003954	0	0
KRT24	192666	broad.mit.edu	37	17	38859882	38859882	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:38859882C>A	ENST00000264651.2	-	1	120	c.64G>T	c.(64-66)Gct>Tct	p.A22S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	22	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.A22S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTCCACCAGCAGACACCCTG	0.642000													26	29					2.4375e-19	3.84375e-19	0.007291	1	0
WIPI2	26100	broad.mit.edu	37	7	5256250	5256250	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:5256250G>A	ENST00000288828.4	+	5	670	c.438G>A	c.(436-438)aaG>aaA	p.K146K	WIPI2_ENST00000382384.2_Silent_p.K128K|WIPI2_ENST00000404704.3_Silent_p.K146K|WIPI2_ENST00000484262.1_Silent_p.K87K|WIPI2_ENST00000401525.3_Silent_p.K128K	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	146					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.K146K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGGACATGAAGGTGCTGCATA	0.498000													33	102					0	0	0.006999	0	0
CDHR1	92211	broad.mit.edu	37	10	85961609	85961609	+	Missense_Mutation	SNP	G	G	C	rs142631189		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr10:85961609G>C	ENST00000372117.3	+	7	675	c.572G>C	c.(571-573)cGc>cCc	p.R191P	CDHR1_ENST00000332904.3_Missense_Mutation_p.R191P	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	191	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity	p.R191P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGTGTGCTGCGCCTCCAGGCT	0.622000													11	22					0	0	0.010729	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23387344	23387344	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:23387344G>T	ENST00000258729.3	-	7	1049	c.693C>A	c.(691-693)gtC>gtA	p.V231V		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	231	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.V231V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTTTACGGTGGACATCGATTC	0.478000													28	127					3.99451e-17	6.19689e-17	0.009535	1	0
OR2T33	391195	broad.mit.edu	37	1	248436974	248436974	+	Missense_Mutation	SNP	T	T	G	rs150221634	byFrequency	TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:248436974T>G	ENST00000318021.2	-	1	164	c.143A>C	c.(142-144)cAc>cCc	p.H48P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTGGTCCCAGTGAATCAGGAG	0.522000													95	65					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197396716	197396716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:197396716C>A	ENST00000367397.1	+	3	1262	c.404C>A	c.(403-405)gCt>gAt	p.A135D	CRB1_ENST00000367400.3_Missense_Mutation_p.A754D|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.A685D|CRB1_ENST00000544212.1_Missense_Mutation_p.A235D|CRB1_ENST00000367399.2_Missense_Mutation_p.A642D|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	754	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A754D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACTTCTAGCTTTGGAAAAC	0.438000													12	59					5.50884e-06	6.27395e-06	0.001368	1	0
CACNA1C	775	broad.mit.edu	37	12	2721098	2721098	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:2721098C>A	ENST00000399655.1	+	29	4012	c.3747C>A	c.(3745-3747)atC>atA	p.I1249I	CACNA1C_ENST00000347598.4_Silent_p.I1269I|CACNA1C_ENST00000399634.1_Silent_p.I1249I|CACNA1C_ENST00000399637.1_Silent_p.I1249I|CACNA1C_ENST00000399606.1_Silent_p.I1269I|CACNA1C_ENST00000399629.1_Silent_p.I1249I|CACNA1C_ENST00000399601.1_Silent_p.I1249I|CACNA1C_ENST00000480911.1_Silent_p.I1249I|CACNA1C_ENST00000399597.1_Silent_p.I1249I|CACNA1C_ENST00000402845.3_Silent_p.I1249I|CACNA1C_ENST00000399641.1_Silent_p.I1249I|CACNA1C_ENST00000335762.5_Silent_p.I1274I|CACNA1C_ENST00000399644.1_Silent_p.I1249I|CACNA1C_ENST00000399595.1_Silent_p.I1249I|CACNA1C_ENST00000399649.1_Silent_p.I1249I|CACNA1C_ENST00000399638.1_Silent_p.I1249I|CACNA1C_ENST00000399617.1_Silent_p.I1249I|CACNA1C_ENST00000399591.1_Silent_p.I1249I|CACNA1C_ENST00000399621.1_Silent_p.I1249I|CACNA1C_ENST00000327702.7_Silent_p.I1249I|CACNA1C_ENST00000399603.1_Silent_p.I1249I|CACNA1C_ENST00000344100.3_Silent_p.I1249I|CACNA1C_ENST00000406454.3_Silent_p.I1249I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1269					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.I1249I(2)|p.I784I(1)|p.I1269I(1)|p.I1299I(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTTCAAAATCGCCATGAACA	0.562000													39	41					1.59361e-14	2.35755e-14	0.006999	1	0
TBX4	9496	broad.mit.edu	37	17	59560748	59560748	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:59560748G>A	ENST00000393853.4	+	9	1675	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	TBX4_ENST00000240335.1_Silent_p.R503R			P57082	TBX4_HUMAN	T-box 4	503					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R503R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGTGTGAGAGGAAGCCACCCT	0.547000													28	42					0	0	0.006320	0	0
DGKZ	8525	broad.mit.edu	37	11	46388906	46388906	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:46388906G>T	ENST00000454345.1	+	3	919	c.794G>T	c.(793-795)tGc>tTc	p.C265F	DGKZ_ENST00000343674.6_Missense_Mutation_p.C93F|DGKZ_ENST00000318201.8_Missense_Mutation_p.C76F|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Missense_Mutation_p.C81F|DGKZ_ENST00000456247.2_Missense_Mutation_p.C76F|DGKZ_ENST00000395574.3_Missense_Mutation_p.C42F|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.C76F|DGKZ_ENST00000527911.1_Missense_Mutation_p.C76F|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	265					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.C265F(1)|p.C76F(1)|p.C93F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGGGCCCCGTGCAGCGAGTCA	0.672000													20	36					1.40151e-16	2.15098e-16	0.010504	1	0
PCOLCE	5118	broad.mit.edu	37	7	100205337	100205337	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:100205337T>C	ENST00000223061.5	+	8	1370	c.1090T>C	c.(1090-1092)Tat>Cat	p.Y364H		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	364	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.Y364H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TATTGGTGCTTATAAAACTGG	0.557000													22	91					0	0	0.006320	0	0
MTMR9	66036	broad.mit.edu	37	8	11177238	11177238	+	Silent	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:11177238C>T	ENST00000221086.3	+	9	1850	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Silent_p.S374S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	459	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding	p.S459S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTTTGTGGTCCTGGGTTAATC	0.423000													36	58					0	0	0.004289	0	0
OR51E2	81285	broad.mit.edu	37	11	4703755	4703755	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr11:4703755A>C	ENST00000396950.3	-	2	426	c.187T>G	c.(187-189)Tgc>Ggc	p.C63G		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C63G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAAGCATGCAGAGAAAGAGG	0.507000													22	56					0	0	0.002780	0	0
CALM1	801	broad.mit.edu	37	14	90870237	90870237	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:90870237G>T	ENST00000356978.4	+	4	458	c.210G>T	c.(208-210)ttG>ttT	p.L70F	CALM1_ENST00000553542.1_Missense_Mutation_p.L34F|CALM1_ENST00000544280.2_Missense_Mutation_p.L34F|CALM1_ENST00000447653.3_Missense_Mutation_p.L71F|RP11-471B22.2_ENST00000555853.1_RNA	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	70	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.L70F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	CCGAATTTTTGACTATGATGG	0.383000													12	27					2.80697e-09	3.61256e-09	0.010729	1	0
GNGT2	2793	broad.mit.edu	37	17	47284772	47284772	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:47284772G>T	ENST00000511277.1	-	3	192	c.13C>A	c.(13-15)Ctc>Atc	p.L5I	GNGT2_ENST00000515635.1_Missense_Mutation_p.L5I|GNGT2_ENST00000507680.1_Missense_Mutation_p.L5I|GNGT2_ENST00000300406.2_Missense_Mutation_p.L5I|GNGT2_ENST00000503070.1_Missense_Mutation_p.L5I|GNGT2_ENST00000511673.1_Missense_Mutation_p.L5I	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	5					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.L5I(1)		endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TTCTCGCTGAGATCCTGGGCC	0.537000													116	176					1.71345e-61	3.72545e-61	0.003610	1	0
C6orf165	154313	broad.mit.edu	37	6	88138502	88138502	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:88138502G>A	ENST00000507897.1	+	9	1202	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	C6ORF165_ENST00000369562.4_Silent_p.A373A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	373								p.A373A(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTAATGGAGCGACTGTGAAAA	0.368000													27	34					0	0	0.005443	0	0
TLR9	54106	broad.mit.edu	37	3	52255676	52255676	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:52255676A>C	ENST00000597542.1	-	9	3685	c.2728T>G	c.(2728-2730)Tgg>Ggg	p.W910G	TLR9_ENST00000494383.1_Missense_Mutation_p.L1039R|TLR9_ENST00000360658.2_Missense_Mutation_p.W886G			Q9NR96	TLR9_HUMAN	toll-like receptor 9	886	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.W886G(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGTACACCCAGTCTGCCACT	0.657000													64	128					0	0	0.003610	0	0
FAM180A	389558	broad.mit.edu	37	7	135418891	135418891	+	Silent	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:135418891G>T	ENST00000338588.3	-	3	619	c.354C>A	c.(352-354)ctC>ctA	p.L118L	FAM180A_ENST00000415751.1_Silent_p.L118L	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	118						extracellular region		p.L118L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTTCTTTCTTGAGGATGCCAG	0.612000													56	56					3.84483e-29	7.02845e-29	0.003610	1	0
SPTAN1	6709	broad.mit.edu	37	9	131347078	131347078	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr9:131347078G>A	ENST00000358161.5	+	18	2629	c.2516G>A	c.(2515-2517)cGc>cAc	p.R839H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R839H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R839H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	839					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.R839H(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CATGAACCACGCATCAAAGCA	0.488000													29	41					0	0	0.009535	0	0
CCDC141	285025	broad.mit.edu	37	2	179742647	179742647	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:179742647G>A	ENST00000409284.1	-	12	2060	c.1943C>T	c.(1942-1944)tCa>tTa	p.S648L	CCDC141_ENST00000295723.5_Intron|CCDC141_ENST00000420890.2_Intron			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	0							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGACTTTGATGAGTATCCCTG	0.358000													30	47					0	0	0.006320	0	0
ASH1L	55870	broad.mit.edu	37	1	155449990	155449990	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:155449990C>T	ENST00000368346.3	-	3	3310	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	ASH1L_ENST00000392403.3_Missense_Mutation_p.G891S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	891					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.G891S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTAGGCCTGCCTCTCTTTTTT	0.453000													135	78					0	0	0.003610	0	0
ROCK1	6093	broad.mit.edu	37	18	18629083	18629083	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr18:18629083C>A	ENST00000399799.1	-	4	1324	c.384G>T	c.(382-384)atG>atT	p.M128I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	128	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.M128I(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGGCAAAAGCCATGATGTCCC	0.373000													44	65					4.44401e-20	7.08573e-20	0.010771	1	0
TROVE2	6738	broad.mit.edu	37	1	193051691	193051691	+	Splice_Site	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:193051691G>C	ENST00000432079.1	+	7	1060		c.e7-1		TROVE2_ENST00000367445.3_Splice_Site|TROVE2_ENST00000416058.2_Splice_Site|TROVE2_ENST00000367444.3_Splice_Site|TROVE2_ENST00000367446.3_Splice_Site|TROVE2_ENST00000367443.1_Splice_Site|TROVE2_ENST00000367441.1_Splice_Site|TROVE2_ENST00000400968.2_Splice_Site|TROVE2_ENST00000460715.2_Splice_Site			P10155	RO60_HUMAN	TROVE domain family, member 2						transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	p.?(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTCCGAATTAGATCCCAGCAG	0.363000													40	21					0	0	0.005524	0	0
WDFY3	23001	broad.mit.edu	37	4	85642649	85642649	+	Silent	SNP	T	T	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:85642649T>C	ENST00000322366.6	-	46	7874	c.7467A>G	c.(7465-7467)caA>caG	p.Q2489Q	WDFY3_ENST00000295888.4_Silent_p.Q2506Q			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2506						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.Q2506Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAATCTGGTCTTGTAGCTGCT	0.488000													36	75					0	0	0.002836	0	0
PLD2	5338	broad.mit.edu	37	17	4713204	4713204	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:4713204A>G	ENST00000263088.6	+	9	871	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	PLD2_ENST00000572940.1_Missense_Mutation_p.Y247C	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	247	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.Y247C(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TTCCTGCTGTACATGTGCCTC	0.572000													85	48					0	0	0.003610	0	0
CDYL	9425	broad.mit.edu	37	6	4716036	4716036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:4716036G>T	ENST00000328908.5	+	2	155	c.24G>T	c.(22-24)agG>agT	p.R8S				Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	8					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.R8S(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAAGCCACAGGTCAGCCTGGG	0.448000													23	9					1.10513e-12	1.51758e-12	0.002299	1	0
ADAM20	8748	broad.mit.edu	37	14	70990220	70990220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:70990220C>A	ENST00000256389.3	-	2	1649	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	419	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E469*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCACATTCCTCCCCTTCTTCA	0.443000													74	152					3.89499e-28	7.03057e-28	0.003610	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110516570	110516570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr8:110516570G>T	ENST00000378402.5	+	68	10947	c.10843G>T	c.(10843-10845)Gga>Tga	p.G3615*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3615					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G3619*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACATTTGTTGGATTTAAGAA	0.284000										HNSCC(38;0.096)			4	44					0.00024832	0.000276232	0.009096	1	0
BNC1	646	broad.mit.edu	37	15	83926424	83926424	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr15:83926424G>T	ENST00000345382.2	-	5	2840	c.2755C>A	c.(2755-2757)Ctt>Att	p.L919I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.L912I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	919					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L919I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCTAGCAAGGCTCTGGTCA	0.527000													82	185					1.84514e-49	3.86537e-49	0.003610	1	0
AMER3	205147	broad.mit.edu	37	2	131521635	131521635	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:131521635G>C	ENST00000423981.1	+	2	2100	c.1990G>C	c.(1990-1992)Ggt>Cgt	p.G664R	AMER3_ENST00000321420.4_Missense_Mutation_p.G664R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.G664R(1)									AGGTCACGGAGGTGACACTCT	0.662000													8	18					0	0	0.003080	0	0
KLHL7	55975	broad.mit.edu	37	7	23163444	23163444	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:23163444G>T	ENST00000322231.7	+	3	593	c.103G>T	c.(103-105)Gct>Tct	p.A35S	KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.A35S|KLHL7_ENST00000339077.4_Missense_Mutation_p.A57S|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000545771.1_Missense_Mutation_p.A35S|KLHL7_ENST00000409689.1_Missense_Mutation_p.A9S|KLHL7_ENST00000410047.1_Missense_Mutation_p.A35S|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322275.5_Missense_Mutation_p.A57S			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	57						Golgi apparatus|nucleolus|plasma membrane		p.A57S(1)|p.A35S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGATACCTGCTCATCGTGT	0.358000													25	65					4.87955e-14	7.03735e-14	0.005443	1	0
KIAA1715	80856	broad.mit.edu	37	2	176812337	176812337	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr2:176812337C>A	ENST00000272748.4	-	9	824	c.577G>T	c.(577-579)Gta>Tta	p.V193L	KIAA1715_ENST00000535310.1_Missense_Mutation_p.V118L|KIAA1715_ENST00000544803.1_Missense_Mutation_p.V193L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	193	Pro-rich.					integral to membrane	protein binding	p.V193L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CCAGGAGATACTGGAACTTGT	0.512000													49	100					2.17126e-26	3.82301e-26	0.003610	1	0
OTOGL	283310	broad.mit.edu	37	12	80660260	80660260	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:80660260C>T	ENST00000458043.2	+	20	2233	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	OTOGL_ENST00000547103.1_Missense_Mutation_p.H743Y	NM_173591.3	NP_775862.3			otogelin-like									p.H743Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATGCTGTACCATCACTGTTC	0.488000													48	9					0	0	0.003610	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710439	140710439	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:140710439G>T	ENST00000517417.1	+	1	188	c.188G>T	c.(187-189)gGa>gTa	p.G63V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G63V	NM_018912.2	NP_061735.1												p.G63V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGATGGCGGAGTCCGCATC	0.572000													67	98					7.75977e-34	1.49467e-33	0.003610	1	0
BBS9	27241	broad.mit.edu	37	7	33573735	33573735	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:33573735G>T	ENST00000242067.6	+	21	2989	c.2468G>T	c.(2467-2469)gGc>gTc	p.G823V	BBS9_ENST00000396127.2_Missense_Mutation_p.G788V|BBS9_ENST00000355070.2_Missense_Mutation_p.G818V|BBS9_ENST00000354265.4_Missense_Mutation_p.G788V|BBS9_ENST00000350941.3_Missense_Mutation_p.G783V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	823					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.G823V(2)	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)			TCCAAAGGTGGCCGTCTCTGC	0.493000									Bardet-Biedl syndrome				34	56					1.45844e-13	2.07213e-13	0.002836	1	0
UBE2O	63893	broad.mit.edu	37	17	74392671	74392671	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:74392671C>A	ENST00000319380.7	-	14	2411	c.2347G>T	c.(2347-2349)Gct>Tct	p.A783S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	783							ATP binding|ubiquitin-protein ligase activity	p.A783S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGGACGGCAGCTGTGGCTGCC	0.662000													72	122					2.48295e-43	5.12666e-43	0.003610	1	0
COL7A1	1294	broad.mit.edu	37	3	48610962	48610962	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:48610962C>A	ENST00000328333.8	-	82	6709	c.6602G>T	c.(6601-6603)gGa>gTa	p.G2201V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2169V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2201	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G2201V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAGAAGGTCCTTGGGGTCC	0.587000													33	19					3.76114e-14	5.47942e-14	0.004289	1	0
PKD1L2	114780	broad.mit.edu	37	16	81228608	81228608	+	Silent	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:81228608C>A	ENST00000599697.1	-	8	1565	c.1566G>T	c.(1564-1566)ctG>ctT	p.L522L	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	522	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.L522L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATTCCTCACCAGCATGGTGA	0.473000													13	53					4.93089e-13	6.90325e-13	0.002450	1	0
MAML3	55534	broad.mit.edu	37	4	141074131	141074131	+	Silent	SNP	G	G	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr4:141074131G>A	ENST00000509479.2	-	1	1207	c.351C>T	c.(349-351)acC>acT	p.T117T		NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	117					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.T117T(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCTGCTCCAGGGTCCGCTGGT	0.672000													12	9					0	0	0.010729	0	0
CTSV	1515	broad.mit.edu	37	9	99799533	99799533	+	Splice_Site	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr9:99799533C>A	ENST00000259470.5	-	4	646		c.e4+1		CTSV_ENST00000538255.1_Splice_Site	NM_001333.3	NP_001324.2			cathepsin V									p.?(1)									CGCTGTCTCACCTGATTCTTC	0.483000													16	27					1.5739e-10	2.09124e-10	0.004007	1	0
ATP1A4	480	broad.mit.edu	37	1	160124868	160124868	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:160124868A>T	ENST00000368081.4	+	3	712	c.241A>T	c.(241-243)Act>Tct	p.T81S		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	81					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.T81S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAATCCTGACTCGAGGTGG	0.507000													30	201					0	0	0.009535	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030231	95030231	+	Missense_Mutation	SNP	C	C	G	rs140563422	byFrequency	TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:95030231C>G	ENST00000557004.1	+	2	833	c.412C>G	c.(412-414)Cgc>Ggc	p.R138G	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R138G|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R138G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	138					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R138G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCTGGAAACACGCGTGGGCAG	0.562000													36	66					0	0	0.004289	0	0
VRTN	55237	broad.mit.edu	37	14	74824273	74824273	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:74824273C>A	ENST00000256362.4	+	2	1028	c.787C>A	c.(787-789)Cca>Aca	p.P263T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	263					transposition, DNA-mediated		DNA binding|transposase activity	p.P263T(1)		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						AGCCCTGGCCCCACTCTCATC	0.632000													22	30					2.39556e-15	3.58087e-15	0.002780	1	0
PKD1L1	168507	broad.mit.edu	37	7	47906168	47906168	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr7:47906168C>T	ENST00000289672.2	-	25	3991	c.3941G>A	c.(3940-3942)gGg>gAg	p.G1314E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1314	REJ.				cell-cell adhesion	integral to membrane		p.G1314E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGTGTAACTCCCCATCAGCTG	0.443000													32	96					0	0	0.010818	0	0
SPG7	6687	broad.mit.edu	37	16	89592826	89592826	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:89592826G>T	ENST00000268704.2	+	5	723	c.708G>T	c.(706-708)gaG>gaT	p.E236D	SPG7_ENST00000341316.2_Missense_Mutation_p.E236D	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	236					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.E236D(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGAATATCGAGGCCAAGGACA	0.458000													50	61					2.29192e-23	3.8243e-23	0.003610	1	0
PROS1	5627	broad.mit.edu	37	3	93619674	93619674	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:93619674T>C	ENST00000394236.3	-	7	1017	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	PROS1_ENST00000407433.1_Missense_Mutation_p.Y103C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	234	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.Y234C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTGAGATTATATCTGTAGCC	0.433000													21	37					0	0	0.003954	0	0
PEG3	5178	broad.mit.edu	37	19	57328066	57328066	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:57328066G>T	ENST00000326441.9	-	10	2107	c.1744C>A	c.(1744-1746)Cag>Aag	p.Q582K	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q458K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q582K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q456K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	582					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q582K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGATTTTCTGGTGCTCAATC	0.468000													26	68					7.33532e-06	8.32109e-06	0.003954	1	0
ZNF235	9310	broad.mit.edu	37	19	44791609	44791609	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:44791609C>T	ENST00000291182.4	-	5	2081	c.1979G>A	c.(1978-1980)tGt>tAt	p.C660Y	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C660Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTCTTTCCCACATTCCTCACA	0.463000													62	90					0	0	0.003610	0	0
PROX1	5629	broad.mit.edu	37	1	214171394	214171394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr1:214171394delG	ENST00000366958.4	+	2	2124	c.1516delG	c.(1516-1518)gafs	p.G506fs	PROX1_ENST00000498508.2_Frame_Shift_Del_p.G506fs|PROX1_ENST00000261454.4_Frame_Shift_Del_p.G506fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.G506fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	506					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCCTTCTCTGGAAAAGACAG	0.557													98	65	---	---	---	---					
CCDC174	51244	broad.mit.edu	37	3	14712602	14712603	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:14712602_14712603insA	ENST00000383794.3	+	11	1378_1379	c.1305_1306insA	c.(1303-1308)cacgtcfs	p.HV435fs	CCDC174_ENST00000303688.7_Frame_Shift_Ins_p.HV359fs	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		GCCCTGAACATACGTCACCCAC	0.550													40	18	---	---	---	---					
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs67798399	by1000genomes	TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195																											GGGAAGACACTGAACAGtaaga	0.500													4	2	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123982754	123982762	+	In_Frame_Del	DEL	TACTTCTCA	TACTTCTCA	-			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:123982754_123982762delTACTTCTCA	ENST00000306315.5	-	4	3750_3758	c.3315_3323delTGAGAAGTA	c.(3313-3324)tac>ta	p.YEKY1105del	ZNF608_ENST00000504926.1_In_Frame_Del_p.YEKY678del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1105						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTCCTCATAGTACTTCTCATACTGCTGTC	0.522													27	81	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													4	4	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1177-1182)ttttttfs	p.FF393fs	HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													9	334	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174037	58174037	+	Splice_Site	DEL	G	G	-	rs143311691		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr12:58174037delG	ENST00000333012.5	+	4	475		c.e4-1		METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000548256.1_Splice_Site	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CTCTCTCTCAGGGGGGGATGT	0.582													35	15	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													7	92	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57511372	57511372	+	RNA	DEL	T	T	-			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr14:57511372delT	ENST00000554725.1	+	0	344																											AGTTTAAGACTTTTTTTTCCT	0.383													2	4	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32823665	32823666	+	RNA	INS	-	-	A			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr16:32823665_32823666insA	ENST00000569859.1	+	0	373																											CAGCCAAAGACAAAAAAAGATG	0.455													7	103	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8215575	8215576	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr17:8215575_8215576insT	ENST00000361926.3	+	2	328_329	c.218_219insT	c.(217-219)cgcfs	p.R73fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R73fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	73	Pro-rich.		P -> S (in dbSNP:rs9890841).		negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCAAGCCCCCTGCTCTTTTGC	0.614													35	31	---	---	---	---					
CD226	10666	broad.mit.edu	37	18	67614136	67614136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr18:67614136delC	ENST00000280200.4	-	3	484	c.216delG	c.(214-216)agfs	p.R72fs	CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Frame_Shift_Del_p.R72fs|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	72	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CATAGGGCTTCCTTATGACCA	0.453													42	44	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1220663	1220676	+	Frame_Shift_Del	DEL	CCTGGACACCTTCT	CCTGGACACCTTCT	-			TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr19:1220663_1220676delCCTGGACACCTTCT	ENST00000326873.7	+	5	1854_1867	c.681_694delCCTGGACACCTTCT	c.(679-696)ggccfs	p.GLDTFS227fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	227	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.F231L(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCAACGGCCTGGACACCTTCTCCGGCTTCAA	0.701		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			17	12	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-05-4415-01A-22D-1855-08	TCGA-05-4415-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128f52c7-49dc-4a9f-a5bc-1c14684edc9c	1339361e-fe70-4584-a7cd-946ccd8476bc	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)ccfs	p.P411fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													11	137	---	---	---	---					
