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
IL1R1	3554	broad.mit.edu	37	2	102781372	102781372	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:102781372C>G	ENST00000410023.1	+	4	518	c.200C>G	c.(199-201)tCt>tGt	p.S67C	IL1R1_ENST00000233946.3_Missense_Mutation_p.S67C|IL1R1_ENST00000409288.1_Missense_Mutation_p.S67C|IL1R1_ENST00000409589.1_Missense_Mutation_p.S67C|IL1R1_ENST00000409329.1_Missense_Mutation_p.S67C|IL1R1_ENST00000424272.1_Missense_Mutation_p.S67C|IL1R1_ENST00000409929.1_Missense_Mutation_p.S67C			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	67	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACACCTGTATCTACAGAACAA	0.408000													6	71					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618253	37618253	+	Silent	SNP	C	C	T	rs139770576		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:37618253C>T	ENST00000337995.3	+	5	575	c.360C>T	c.(358-360)ttC>ttT	p.F120F	ZNF420_ENST00000304239.7_Silent_p.F120F|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCCATTTTCAACCAGCATA	0.393000													8	40					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689944	79689944	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:79689944G>A	ENST00000261205.4	+	7	1227	c.570G>A	c.(568-570)aaG>aaA	p.K190K	SYT1_ENST00000393240.3_Silent_p.K190K|SYT1_ENST00000552744.1_Silent_p.K190K|SYT1_ENST00000457153.2_Silent_p.K187K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	190	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TACCTGATAAGAAGAAGAAAT	0.418000													7	66					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358631	72358631	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:72358631C>T	ENST00000441259.1	-	3	1006	c.846G>A	c.(844-846)aaG>aaA	p.K282K	PRF1_ENST00000373209.2_Silent_p.K282K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	282	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCTTCTTCTTCTTCTCCTCAC	0.587000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				4	36					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414248	105414248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:105414248C>T	ENST00000333244.5	-	7	7659	c.7540G>A	c.(7540-7542)Gag>Aag	p.E2514K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2514						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTCGGCCTCCACCTTCGGC	0.622000													30	200					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47071377	47071377	+	Silent	SNP	C	C	T	rs145491235		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr22:47071377C>T	ENST00000406902.1	+	17	1704	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	GRAMD4_ENST00000361034.3_Silent_p.F497F|GRAMD4_ENST00000408031.1_Silent_p.F20F			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	497	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACTTGTGCTTCGAAAGCTCCA	0.577000													14	142					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150725599	150725599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:150725599C>T	ENST00000542328.1	+	1	63	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ABCB8_ENST00000498578.1_5'UTR|ABCB8_ENST00000297504.6_5'UTR|ABCB8_ENST00000358849.4_5'UTR|ABCB8_ENST00000477092.1_5'UTR|ABCB8_ENST00000477719.1_5'UTR|ABCB8_ENST00000356058.4_5'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	0						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTACCGCGTCAGCATGCTGG	0.622000											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57741284	57741284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:57741284G>C	ENST00000261558.3	+	2	803	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	AP5M1_ENST00000431972.2_Missense_Mutation_p.E147Q	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	133					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											ACAAGGCTTTGAATTTCTTTT	0.408000													5	69					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219411748	219411748	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:219411748G>C	ENST00000258399.3	-	7	908	c.496C>G	c.(496-498)Ccg>Gcg	p.P166A	USP37_ENST00000338465.5_Missense_Mutation_p.P166A|USP37_ENST00000454775.1_Missense_Mutation_p.P166A|USP37_ENST00000418019.1_Missense_Mutation_p.P166A|USP37_ENST00000415516.1_Missense_Mutation_p.P94A	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	166					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTCTACCCGGATTACCAAGA	0.383000													5	96					0	0	1	0	0
PFDN5	5204	broad.mit.edu	37	12	53689366	53689366	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:53689366T>G	ENST00000551018.1	+	1	292	c.15T>G	c.(13-15)atT>atG	p.I5M	PFDN5_ENST00000550846.1_Missense_Mutation_p.I5M|PFDN5_ENST00000351500.3_Missense_Mutation_p.I5M|PFDN5_ENST00000334478.4_Missense_Mutation_p.I5M	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	5					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CGCAGTCTATTAACATCACGG	0.602000													8	116					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6644990	6644990	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:6644990G>C	ENST00000299441.3	-	21	8328	c.7917C>G	c.(7915-7917)ttC>ttG	p.F2639L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2639	Cadherin 25.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGACAGTGAAACGCACGA	0.612000													8	53					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121366186	121366186	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:121366186C>G	ENST00000314583.3	-	4	359	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	HCLS1_ENST00000428394.2_Missense_Mutation_p.E90Q	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	90					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CGGTCTCTTTCTACTCCAAAC	0.483000													19	170					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568328	45568328	+	RNA	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:45568328C>G	ENST00000256692.5	-	0	357					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATGTATTATCTACAGAATGA	0.468000													9	64					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75659887	75659887	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:75659887C>T	ENST00000565683.1	-	3	327	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	MAN2C1_ENST00000267978.5_Missense_Mutation_p.E106K|MAN2C1_ENST00000563622.1_Missense_Mutation_p.E106K|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Missense_Mutation_p.E106K	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	106					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						ACCAGACCTTCTCCATCACTT	0.577000													7	63					0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168307	74168307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:74168307G>A	ENST00000310128.4	-	3	721	c.302C>T	c.(301-303)tCt>tTt	p.S101F	RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.S101F	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	101						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TTAGATCATAGACACACGGTT	0.547000													4	19					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19823026	19823026	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:19823026C>G	ENST00000344099.3	-	4	1202	c.1064G>C	c.(1063-1065)aGa>aCa	p.R355T		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AATATGAGTTCTTTCATGCAC	0.388000													9	70					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109806318	109806318	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:109806318C>T	ENST00000271332.3	+	9	4981	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1640	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGGTACCTCAGCCTCATGT	0.652000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	65					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170885059	170885059	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:170885059C>A	ENST00000436636.2	-	10	1118	c.774G>T	c.(772-774)tgG>tgT	p.W258C	TNIK_ENST00000284483.8_Splice_Site_p.W258C|TNIK_ENST00000470834.1_Splice_Site_p.W258C|TNIK_ENST00000341852.6_Splice_Site_p.W258C|TNIK_ENST00000538048.1_Splice_Site_p.W258C|TNIK_ENST00000460047.1_Splice_Site_p.W258C|TNIK_ENST00000488470.1_Splice_Site_p.W258C|TNIK_ENST00000357327.5_Splice_Site_p.W258C|TNIK_ENST00000369326.5_Splice_Site_p.W258C|TNIK_ENST00000475336.1_Splice_Site_p.W258C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	258	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTTTTTTGACCTGCCAAACA	0.378000													3	23					0.00024832	0.000262298	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068280	189068280	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:189068280C>G	ENST00000332517.3	+	6	1301	c.1161C>G	c.(1159-1161)taC>taG	p.Y387*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	387	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAGATGATTACAGCCTCTGGG	0.488000													4	77					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1009194	1009194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:1009194C>T	ENST00000448903.2	+	19	2656	c.2515C>T	c.(2515-2517)Caa>Taa	p.Q839*	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Nonsense_Mutation_p.Q840*|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	839					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGATTTCTTTCAACGTTGGAA	0.527000													7	23					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855424	31855424	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:31855424G>C	ENST00000395728.3	-	14	2111	c.2112C>G	c.(2110-2112)ctC>ctG	p.L704L	EHMT2_ENST00000375528.4_Silent_p.L670L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.L647L|EHMT2_ENST00000375530.4_Silent_p.L613L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	647					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGTGGAAACGGAGCTTCTTCC	0.617000													4	71					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170885057	170885057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:170885057G>T	ENST00000436636.2	-	10	1120	c.776C>A	c.(775-777)tCa>tAa	p.S259*	TNIK_ENST00000284483.8_Nonsense_Mutation_p.S259*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.S259*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.S259*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.S259*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.S259*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.S259*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.S259*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.S259*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.S259*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	259	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAATTTTTTTGACCTGCCAAA	0.373000													3	22					0.150653	0.151604	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95147413	95147413	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:95147413G>C	ENST00000354268.4	+	3	407	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E112Q			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	112					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TACAGTTCAAGAGAAAACATT	0.303000													7	128					0	0	1	0	0
DCBLD1	285761	broad.mit.edu	37	6	117866679	117866679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:117866679C>T	ENST00000338728.5	+	14	1654	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	DCBLD1_ENST00000368503.4_Nonsense_Mutation_p.Q313*|DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.Q512*|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	512					cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TGCCAGACATCAGTCAGCTGA	0.383000													15	77					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45232121	45232121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:45232121G>A	ENST00000066544.3	-	8	967	c.874C>T	c.(874-876)Cct>Tct	p.P292S	CDC27_ENST00000531206.1_Missense_Mutation_p.P292S|CDC27_ENST00000446365.2_Missense_Mutation_p.P231S|CDC27_ENST00000527547.1_Missense_Mutation_p.P292S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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 K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATCTCCAGGACTTGGGGTT	0.383000													4	26					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859264	14859264	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:14859264G>A	ENST00000380881.4	-	5	1363	c.548C>T	c.(547-549)cCa>cTa	p.P183L	FREM1_ENST00000422223.2_Missense_Mutation_p.P183L|FREM1_ENST00000380880.3_Missense_Mutation_p.P183L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	183					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATGGGCTGGCAGCCGAGT	0.507000													7	71					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35387922	35387922	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:35387922C>T	ENST00000311565.4	+	5	498	c.149C>T	c.(148-150)tCg>tTg	p.S50L	PPARD_ENST00000448077.2_Missense_Mutation_p.S11L|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.S50L|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.S50L|PPARD_ENST00000360694.3_Missense_Mutation_p.S50L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	50					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CGGAGCTCCTCGCCACCCTCA	0.682000													12	47					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64573749	64573749	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:64573749C>T	ENST00000337652.1	-	7	1522	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	MEN1_ENST00000443283.1_Missense_Mutation_p.R340Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R335Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R340Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Missense_Mutation_p.R340Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R335Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R335Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R340Q|MEN1_ENST00000377326.3_Missense_Mutation_p.R335Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R300Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	340	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGGGCTTCCCGCACATTGCG	0.592000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	107					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704128	113704128	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:113704128G>C	ENST00000374431.3	-	4	749	c.366C>G	c.(364-366)ctC>ctG	p.L122L	LPAR1_ENST00000358883.4_Silent_p.L122L|LPAR1_ENST00000538760.1_Silent_p.L123L|LPAR1_ENST00000374430.2_Silent_p.L122L|LPAR1_ENST00000541779.1_Silent_p.L123L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	122					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCTGACGAAGGAGCCATGTGC	0.522000													23	84					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545702	151545702	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:151545702C>T	ENST00000232892.7	+	5	1068	c.942C>T	c.(940-942)ttC>ttT	p.F314F	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase						positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCCAGGGTTCCTAGATGTGA	0.423000													8	64					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739619	55739619	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:55739619G>C	ENST00000370830.3	-	1	743	c.45C>G	c.(43-45)ctC>ctG	p.L15L	BMP5_ENST00000446683.2_Silent_p.L15L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	15					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCAGCTCCAGAGGAAACCCA	0.378000													28	115					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659488	176659488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:176659488G>T	ENST00000367662.3	+	5	3517	c.2353G>T	c.(2353-2355)Gaa>Taa	p.E785*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.E785*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	785					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						GCTGTGCCGGGAACCAGAGCC	0.577000													13	71					2.61681e-11	2.90858e-11	1	1	0
ACPL2	92370	broad.mit.edu	37	3	140997339	140997339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:140997339G>A	ENST00000508812.1	+	2	2115	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	ACPL2_ENST00000393007.1_Missense_Mutation_p.E63K|ACPL2_ENST00000504264.1_Missense_Mutation_p.E62K|ACPL2_ENST00000502783.1_Missense_Mutation_p.E41K|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.E79K|ACPL2_ENST00000286353.4_Missense_Mutation_p.E79K			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	79						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GCGCAGCATGGAAGGTAGGCC	0.567000													6	70					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70176393	70176393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:70176393G>A	ENST00000253925.7	+	8	1260	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E349K|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	349					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACTTGAAAATGAAATTGCAAA	0.373000													44	57					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70900073	70900073	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:70900073C>G	ENST00000393567.2	-	67	11620	c.11470G>C	c.(11470-11472)Gag>Cag	p.E3824Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3824										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGACTCACTCAAACACTCGG	0.428000													6	28					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114089989	114089989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:114089989G>A	ENST00000374428.1	-	1	811	c.812C>T	c.(811-813)gCc>gTc	p.A271V	OR2K2_ENST00000302681.1_Missense_Mutation_p.A242V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGTCAAATGGGCACCACAGGT	0.413000													4	27					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33434083	33434083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:33434083C>G	ENST00000283629.3	-	15	2086	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	UBP1_ENST00000283628.5_Missense_Mutation_p.E519D|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.E483D	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	519					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AAAAACAACTCTCATCTTGAA	0.343000													3	24					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74275318	74275318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:74275318G>C	ENST00000409262.3	+	1	1869	c.1869G>C	c.(1867-1869)aaG>aaC	p.K623N		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	623							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAAATCAAGATTGAGTCTT	0.597000													3	11					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27904203	27904203	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:27904203G>A	ENST00000225394.3	-	11	1292	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	GIT1_ENST00000581348.1_Silent_p.L357L|GIT1_ENST00000579937.1_Silent_p.L348L|GIT1_ENST00000394869.3_Silent_p.L357L|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	348	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGCCTCACTGAGAATGTCGA	0.632000													20	134					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30532938	30532938	+	Silent	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:30532938G>T	ENST00000356798.6	+	31	3645	c.3465G>T	c.(3463-3465)ctG>ctT	p.L1155L	ITGAL_ENST00000433423.2_Silent_p.L389L|ITGAL_ENST00000358164.5_Silent_p.L1071L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1155					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCGGCTGCCTGAAGCCCCTCC	0.607000													7	42					0.000274275	0.000287808	1	1	0
PUM2	23369	broad.mit.edu	37	2	20478446	20478446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:20478446G>C	ENST00000361078.2	-	12	1877	c.1855C>G	c.(1855-1857)Cca>Gca	p.P619A	PUM2_ENST00000319801.5_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.P563A|PUM2_ENST00000403432.1_Missense_Mutation_p.P619A|PUM2_ENST00000338086.5_Missense_Mutation_p.P619A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	619	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGGACTTGGAGAGGAGGAA	0.463000													6	50					0	0	1	0	0
EMC4	51234	broad.mit.edu	37	15	34520651	34520651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:34520651C>A	ENST00000267750.4	+	4	493	c.377C>A	c.(376-378)tCa>tAa	p.S126*	EMC4_ENST00000559421.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		TTAGAAAGTTCAAGCCAGAAG	0.418000													11	85					5.50884e-06	5.97728e-06	1	1	0
KIAA0895L	653319	broad.mit.edu	37	16	67213970	67213970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:67213970C>G	ENST00000290881.7	-	3	1470	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.E182Q|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.E182Q			Q68EN5	K895L_HUMAN	KIAA0895-like	182										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCAGAGGCCTCGCAGTACTTT	0.592000													5	57					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417658	70417658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr18:70417658C>T	ENST00000327305.6	-	9	1837	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	NETO1_ENST00000299430.2_Missense_Mutation_p.E393K|NETO1_ENST00000583169.1_Missense_Mutation_p.E394K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	394					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTGCATAACTCATAATGAGGA	0.428000													3	42					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134769290	134769290	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:134769290G>C	ENST00000292035.5	-	5	726	c.663C>G	c.(661-663)gtC>gtG	p.V221V	MED27_ENST00000357028.2_Intron	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	221					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTCTGTGTAGACATTCTCGT	0.433000													9	17					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93167736	93167736	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:93167736G>C	ENST00000370331.1	-	5	742	c.733C>G	c.(733-735)Caa>Gaa	p.Q245E	EVI5_ENST00000543509.1_Missense_Mutation_p.Q245E|EVI5_ENST00000540033.1_Missense_Mutation_p.Q245E	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	245	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCACTTCCTTGACAGTAACCA	0.308000													5	36					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116418557	116418557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:116418557C>T	ENST00000281928.3	-	23	5568	c.5362G>A	c.(5362-5364)Gag>Aag	p.E1788K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1788					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATACCTACCTCAGGGTTCTTG	0.463000													13	73					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729370	35729370	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:35729370C>G	ENST00000187397.4	+	6	857	c.401C>G	c.(400-402)tCa>tGa	p.S134*	ARPP21_ENST00000444190.1_Nonsense_Mutation_p.S134*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.S134*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.S134*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.S134*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	134						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAATGTTATCAAAAGGTGAA	0.348000													7	94					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414829	88414829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:88414829G>C	ENST00000418378.1	-	5	1694	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	SPARCL1_ENST00000282470.6_Missense_Mutation_p.Q375E|SPARCL1_ENST00000503414.1_Missense_Mutation_p.Q250E	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	375					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCAATGGATTGAGCTCTCTCG	0.488000													5	52					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185939535	185939535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:185939535G>A	ENST00000271588.4	+	15	2510	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E761K|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	761	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGATTCAAGAAACACAAGA	0.443000													19	150					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89124637	89124637	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:89124637G>A	ENST00000554922.1	-	26	4019	c.3771C>T	c.(3769-3771)ggC>ggT	p.G1257G	EML5_ENST00000352093.5_Silent_p.G1219G|EML5_ENST00000380664.5_Silent_p.G1257G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1257						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATCTGTACCGCCTAGGGTAA	0.413000													7	92					0	0	1	0	0
NUDT11	55190	broad.mit.edu	37	X	51239032	51239032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:51239032G>C	ENST00000375992.3	-	1	416	c.265C>G	c.(265-267)Cgc>Ggc	p.R89G		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	89	Nudix hydrolase.|Substrate binding (By similarity).					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CTGTGCTTGCGATCCTGGTTC	0.582000										HNSCC(48;0.14)			5	48					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125461916	125461916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:125461916G>A	ENST00000308736.2	-	5	957	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	DHX37_ENST00000544745.1_Nonsense_Mutation_p.Q74*	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	287	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TAGAGAAACTGAGGCACCTGT	0.557000													14	125					0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24675793	24675793	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:24675793C>G	ENST00000339917.5	+	2	508	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	TSSK4_ENST00000287913.6_Missense_Mutation_p.L102V|TSSK4_ENST00000556621.1_Missense_Mutation_p.L26V|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	102	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		ATACATCATTCTGGAACTGGC	0.547000													7	62					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32598146	32598146	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:32598146T>A	ENST00000286827.3	-	8	2176	c.1705A>T	c.(1705-1707)Aaa>Taa	p.K569*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.K569*|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	569					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.K569*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGTTCCAGTTTTTTGATCTCT	0.458000													9	87					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70611504	70611504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:70611504C>G	ENST00000370952.3	-	15	1867	c.1788G>C	c.(1786-1788)ttG>ttC	p.L596F		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	596										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTCGGTCTCTCAAATATTCAA	0.358000													4	77					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142188289	142188289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:142188289G>A	ENST00000350721.4	-	38	6563	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Nonsense_Mutation_p.R2084*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2148	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGACAAATTCGAGAGATCAAT	0.343000								Other conserved DNA damage response genes					13	74					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924288	43924288	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:43924288G>C	ENST00000329196.5	+	1	2033	c.2016G>C	c.(2014-2016)ttG>ttC	p.L672F	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	672						integral to membrane	aspartic-type endopeptidase activity										GGAAGGGTTTGAAAGTAAGAA	0.617000													6	33					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227922992	227922992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:227922992G>A	ENST00000366758.3	-	1	120	c.121C>T	c.(121-123)Cga>Tga	p.R41*	SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Nonsense_Mutation_p.R41*	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	41										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGCACGGGTCGAAGGACCCTC	0.721000													4	12					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583935	118583935	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:118583935C>T	ENST00000263239.2	+	11	1740	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	538	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTGGGTTTTCTTCGCTACTT	0.438000													4	14					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358632	72358632	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:72358632T>A	ENST00000441259.1	-	3	1005	c.845A>T	c.(844-846)aAg>aTg	p.K282M	PRF1_ENST00000373209.2_Missense_Mutation_p.K282M	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	282	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTTCTTCTTCTTCTCCTCACA	0.592000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				4	36					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63511110	63511110	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr18:63511110C>T	ENST00000536984.2	+	7	1738	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	CDH7_ENST00000323011.3_Silent_p.A348A|CDH7_ENST00000397968.2_Silent_p.A348A			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	348	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATAAAGATGCCGACCCTCGCT	0.443000													7	58					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959535	70959535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:70959535G>A	ENST00000322954.6	-	16	3673	c.3488C>T	c.(3487-3489)tCt>tTt	p.S1163F	UACA_ENST00000379983.2_Missense_Mutation_p.S1150F|UACA_ENST00000560441.1_Missense_Mutation_p.S1148F|UACA_ENST00000539319.1_Missense_Mutation_p.S1054F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1163						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CAGGGGTACAGAAGAGTTCTT	0.398000													17	130					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815459	158815459	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:158815459A>T	ENST00000368141.4	+	5	914	c.653A>T	c.(652-654)aAa>aTa	p.K218I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	218	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GTGGTACTGAAAGCAACAGCG	0.473000													6	35					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190927061	190927061	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:190927061G>A	ENST00000260950.4	-	1	394	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	88					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATCAGTTCCCGGAGTGGAGGA	0.428000													8	52					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816168	23816168	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:23816168G>A	ENST00000264867.2	-	8	1057	c.938C>T	c.(937-939)tCt>tTt	p.S313F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	313	Interaction with PPARG.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGCTTTGGAGAAGCCCTAAA	0.443000													15	65					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255739	70255739	+	Silent	SNP	C	C	T	rs71549378		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:70255739C>T	ENST00000342771.4	+	19	3858	c.3537C>T	c.(3535-3537)ctC>ctT	p.L1179L	AUTS2_ENST00000406775.2_Silent_p.L1155L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1179	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGGACACCTCCCCCACCCCA	0.672000													7	22					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32199070	32199070	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:32199070C>G	ENST00000492345.1	+	5	974	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V	CBFA2T2_ENST00000346541.3_Missense_Mutation_p.L126V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L136V|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L97V|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L97V|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L126V|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L117V			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	126	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTTACCACTCTGCAACAGTT	0.507000													5	99					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948209	68948209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:68948209C>G	ENST00000456315.2	-	8	1396	c.1282G>C	c.(1282-1284)Gat>Cat	p.D428H	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	428					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CCTGGCACATCTACAATTCCT	0.368000													12	124					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102250284	102250284	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:102250284A>G	ENST00000369138.1	+	8	1664	c.1174A>G	c.(1174-1176)Atc>Gtc	p.I392V	GRIK2_ENST00000369137.3_Missense_Mutation_p.I392V|GRIK2_ENST00000318991.6_Missense_Mutation_p.I392V|GRIK2_ENST00000369134.4_Missense_Mutation_p.I343V|GRIK2_ENST00000413795.1_Missense_Mutation_p.I392V|GRIK2_ENST00000421544.1_Missense_Mutation_p.I392V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	392					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTGGATGTGATCAGTCTGAA	0.353000													3	39					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62844907	62844907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:62844907C>T	ENST00000536311.1	+	10	1902	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	MYT1_ENST00000328439.1_Missense_Mutation_p.A513V|MYT1_ENST00000360149.4_Missense_Mutation_p.A215V			Q01538	MYT1_HUMAN	myelin transcription factor 1	513					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A513G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTCCCATTGCTGCCGCCGAA	0.552000													7	44					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688640	111688640	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:111688640C>G	ENST00000431670.2	+	16	3830	c.3419C>G	c.(3418-3420)tCa>tGa	p.S1140*	PHLDB2_ENST00000495180.1_Nonsense_Mutation_p.S631*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.S1097*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.S1140*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.S1124*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.S1097*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1140						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TACCATGTATCAATCACAGAG	0.458000													8	81					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127681160	127681160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:127681160C>T	ENST00000508053.1	-	30	4080	c.3106G>A	c.(3106-3108)Gag>Aag	p.E1036K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1036K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1003K			P35556	FBN2_HUMAN	fibrillin 2	1036	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTCACACTCGGTGCCCCAA	0.607000													10	68					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835266	12835266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:12835266G>C	ENST00000357726.4	+	1	283	c.256G>C	c.(256-258)Gat>Cat	p.D86H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	86										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGGGCTTGATGCACTGCT	0.582000													9	70					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32598155	32598155	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:32598155C>T	ENST00000286827.3	-	8	2167	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	TIAM1_ENST00000541036.1_Missense_Mutation_p.E566K|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	566					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTTTGATCTCTGATTTCAGG	0.483000													9	80					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965866	49965866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:49965866G>A	ENST00000293350.4	+	8	1115	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.E155K|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.E153K|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.E267K	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	318							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGTGTGGGATGAAGCCATGAG	0.632000													5	94					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155565861	155565861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:155565861G>A	ENST00000461783.3	+	20	4760	c.3487G>A	c.(3487-3489)Gat>Aat	p.D1163N	TIAM2_ENST00000275246.7_Missense_Mutation_p.D88N|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1163N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1163N|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1187N|TIAM2_ENST00000367174.2_Missense_Mutation_p.D539N|TIAM2_ENST00000528391.2_Missense_Mutation_p.D499N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1163N|TIAM2_ENST00000456877.2_Missense_Mutation_p.D475N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1163	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GACCCTGGAGGATGGGATTTC	0.418000													17	125					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269968	43269968	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:43269968G>C	ENST00000372585.5	+	8	1187	c.1092G>C	c.(1090-1092)ctG>ctC	p.L364L	SLC22A7_ENST00000372589.3_Silent_p.L362L|SLC22A7_ENST00000372574.3_Silent_p.L362L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	364						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ATTACGGCCTGAGTCTGGATG	0.577000													6	64					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440334	57440334	+	Splice_Site	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:57440334A>G	ENST00000442789.2	-	9	928		c.e9+1		MYO1A_ENST00000544473.1_Splice_Site|MYO1A_ENST00000300119.3_Splice_Site	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA						sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCAGGCACATACTCAGCAGCT	0.522000													12	85					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687111	136687111	+	Silent	SNP	C	C	T	rs143331676	byFrequency	TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:136687111C>T	ENST00000354570.3	-	10	1445	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	MAP7_ENST00000438100.2_Silent_p.P330P|MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000544465.1_Silent_p.P330P|MAP7_ENST00000432797.2_Silent_p.P199P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592000													3	50					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452894	100452894	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:100452894A>C	ENST00000279907.7	-	14	2373	c.2161T>G	c.(2161-2163)Tca>Gca	p.S721A	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S371A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	721										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGAGGGAATGAGTCTACAAAA	0.398000													15	72					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130106920	130106920	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:130106920G>A	ENST00000525842.1	-	5	1703	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	ZBTB44_ENST00000357899.4_Missense_Mutation_p.R446C|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R446C|ZBTB44_ENST00000397753.1_Missense_Mutation_p.R446C	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TGCTTTAGGCGATGCATCTTT	0.428000													5	66					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20981309	20981309	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:20981309C>T	ENST00000261383.3	-	52	8262	c.8263G>A	c.(8263-8265)Gaa>Aaa	p.E2755K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2755	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCACATTCGTTCTGTGGG	0.597000													4	44					0	0	1	0	0
CD47	961	broad.mit.edu	37	3	107776334	107776334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:107776334C>T	ENST00000355354.7	-	7	983	c.867G>A	c.(865-867)atG>atA	p.M289I	CD47_ENST00000361309.5_Missense_Mutation_p.M289I	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	289					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CCACAAATTTCATATAAACTA	0.318000													5	62					0	0	1	0	0
HOXC6	3223	broad.mit.edu	37	12	54422624	54422624	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:54422624G>C	ENST00000394331.3	+	2	1783	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.E107Q|HOXC4_ENST00000303406.4_Intron	NM_153693.4	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	107					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTAGTTCTGAGCAGGGCAG	0.478000													7	105					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719825	140719825	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:140719825C>A	ENST00000394576.2	+	1	1287	c.1287C>A	c.(1285-1287)aaC>aaA	p.N429K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGGGAACCCCTCCCTGT	0.517000													8	47					0.00448238	0.00464247	1	1	0
CUBN	8029	broad.mit.edu	37	10	17152924	17152924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:17152924G>C	ENST00000377833.4	-	9	1074	c.1009C>G	c.(1009-1011)Cca>Gca	p.P337A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	337	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACCTGGTGGACAGGCCTGG	0.493000													9	90					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618244	37618244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:37618244G>A	ENST00000337995.3	+	5	566	c.351G>A	c.(349-351)atG>atA	p.M117I	ZNF420_ENST00000304239.7_Missense_Mutation_p.M117I|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGACAAAATGTCCATTTTCA	0.383000													8	41					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820541	55820541	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:55820541C>T	ENST00000328314.3	+	1	504	c.504C>T	c.(502-504)tcC>tcT	p.S168S		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTGTGACTCCAATGTCATTG	0.443000													16	91					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959536	70959536	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:70959536A>T	ENST00000322954.6	-	16	3672	c.3487T>A	c.(3487-3489)Tct>Act	p.S1163T	UACA_ENST00000379983.2_Missense_Mutation_p.S1150T|UACA_ENST00000560441.1_Missense_Mutation_p.S1148T|UACA_ENST00000539319.1_Missense_Mutation_p.S1054T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1163						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGGGGTACAGAAGAGTTCTTT	0.393000													17	130					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994210	57994210	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:57994210G>C	ENST00000354947.5	+	7	819	c.803G>C	c.(802-804)aGa>aCa	p.R268T	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R250T|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R268T|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R220T			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	268	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AAGCTGAAGAGAGATGTGGAG	0.428000													5	39					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753401	13753401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:13753401C>T	ENST00000265104.4	-	63	10917	c.10813G>A	c.(10813-10815)Gat>Aat	p.D3605N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3605	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGTGGATCAATTAACAAA	0.368000									Kartagener syndrome				8	78					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976690	4976690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:4976690C>T	ENST00000380371.1	-	1	253	c.254G>A	c.(253-255)aGc>aAc	p.S85N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAAGATGCTTAACACAGT	0.468000													8	47					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223499122	223499122	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:223499122C>T	ENST00000281828.6	-	6	857	c.594G>A	c.(592-594)atG>atA	p.M198I	FARSB_ENST00000536361.1_Missense_Mutation_p.M99I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	198					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TGTATATGTTCATCAGTTCAC	0.368000													6	66					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57496588	57496588	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:57496588C>G	ENST00000351747.2	-	5	578	c.398G>C	c.(397-399)aGa>aCa	p.R133T	DNAH12_ENST00000389536.4_Missense_Mutation_p.R133T|DNAH12_ENST00000311202.6_Missense_Mutation_p.R133T	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	133	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AAGTTCTTCTCTTTCTTTCCC	0.393000													6	42					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224418	77224418	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:77224418A>G	ENST00000458128.1	-	1	717	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	240					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	p.C240R(1)		endometrium(2)|lung(4)	6						ATGGCTTTGCACACCGTCTCT	0.562000													3	47					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43477254	43477254	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:43477254G>C	ENST00000372441.1	-	1	1170	c.270C>G	c.(268-270)ctC>ctG	p.L90L		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	90																	GCACTCACAAGAGGGACTGGA	0.647000													6	21					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509640	33509640	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:33509640G>A	ENST00000360596.2	+	13	1730	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.E457K|ACSS2_ENST00000253382.5_Missense_Mutation_p.E520K	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	507					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCCGGGGAAGAGTTGGAAGG	0.507000													38	286					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149666	202149666	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:202149666C>T	ENST00000358485.4	+	8	1303	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	CASP8_ENST00000264275.5_Silent_p.F327F|CASP8_ENST00000323492.7_Silent_p.F295F|CASP8_ENST00000264274.9_Silent_p.F226F|CASP8_ENST00000432109.2_Silent_p.F310F|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	310					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGACTGCTTCATCTGCTGTA	0.463000										HNSCC(4;0.00038)			8	110					0	0	1	0	0
C4orf46	201725	broad.mit.edu	37	4	159590922	159590922	+	Splice_Site	SNP	T	T	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:159590922T>A	ENST00000379205.4	-	2	431		c.e2-2		C4orf46_ENST00000508457.1_Intron|C4orf46_ENST00000508836.1_Splice_Site	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46											kidney(1)|lung(3)|skin(1)	5						AAAGGCTGCCTAAAAAAAAAA	0.338000													4	27					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21471748	21471748	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:21471748A>G	ENST00000307378.6	-	4	890	c.170T>C	c.(169-171)cTa>cCa	p.L57P	SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L55P|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L57P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	57					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GAATCCAACTAGAGATGTTGG	0.328000													16	169					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547235	37547235	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:37547235C>G	ENST00000299824.1	+	11	1819	c.1630C>G	c.(1630-1632)Ccc>Gcc	p.P544A	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P502A	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	544					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCGGAGATCCCCCACTCTT	0.557000													7	36					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777841	237777841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:237777841C>T	ENST00000366574.2	+	37	5730	c.5413C>T	c.(5413-5415)Cat>Tat	p.H1805Y	RYR2_ENST00000360064.6_Missense_Mutation_p.H1803Y|RYR2_ENST00000542537.1_Missense_Mutation_p.H1789Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1805	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCAGTCTTCATGCCCGGGA	0.468000													19	139					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858233	42858233	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:42858233C>A	ENST00000455697.1	-	7	1888	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.D535Y|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.D535Y|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.D535Y|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.D535Y	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	535					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCCATCGAATCCCGAACACTT	0.413000													12	127					6.72482e-11	7.4229e-11	1	1	0
TTC3	7267	broad.mit.edu	37	21	38538902	38538902	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:38538902G>C	ENST00000399017.2	+	33	7133	c.4386G>C	c.(4384-4386)caG>caC	p.Q1462H	TTC3_ENST00000355666.1_Missense_Mutation_p.Q1462H|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1462H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1462					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CACACGTGCAGATGGTTGCCA	0.353000													3	29					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25421983	25421983	+	RNA	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:25421983C>T	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							TGGGTTGGGTCGATGATGAGA	0.537000													7	180					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51686015	51686015	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:51686015G>A	ENST00000267012.4	-	10	936	c.875C>T	c.(874-876)tCt>tTt	p.S292F	BIN2_ENST00000452142.2_Missense_Mutation_p.S260F|BIN2_ENST00000544402.1_Missense_Mutation_p.S266F|BIN2_ENST00000604560.1_Missense_Mutation_p.S265F	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	292						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGCTGAGACAGATTCACTCTC	0.473000													11	79					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633034	633034	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:633034G>A	ENST00000321878.5	+	11	1904	c.1745G>A	c.(1744-1746)tGa>tAa	p.*582*	PIGQ_ENST00000026218.5_Silent_p.L561L|PIGQ_ENST00000409527.2_Silent_p.*582*	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AAGCAGGACTGAGGGAACTGC	0.652000													5	49					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135197569	135197569	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:135197569T>A	ENST00000278060.5	+	4	1057	c.974T>A	c.(973-975)cTg>cAg	p.L325Q	PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.L325Q	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	463					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AAAATCTTCCTGGAGTTTGAG	0.567000													9	92					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932597	110932597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:110932597G>T	ENST00000265171.5	+	24	4055	c.3610G>T	c.(3610-3612)Gag>Tag	p.E1204*	EGF_ENST00000509793.1_Nonsense_Mutation_p.E1162*|EGF_ENST00000503392.1_Nonsense_Mutation_p.E1163*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1204					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACACCAAATGGAGCTGACTCA	0.453000													9	83					1.33987e-11	1.49447e-11	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157514224	157514224	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:157514224G>C	ENST00000361835.3	-	5	829	c.672C>G	c.(670-672)ctC>ctG	p.L224L	FCRL5_ENST00000368189.3_Silent_p.L224L|FCRL5_ENST00000356953.4_Silent_p.L224L|FCRL5_ENST00000368191.3_Silent_p.L139L|FCRL5_ENST00000368190.3_Silent_p.L224L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	224	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCGGAACCGGAGCGGGACAT	0.562000													9	113					0	0	1	0	0
C12orf45	121053	broad.mit.edu	37	12	105382019	105382019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:105382019G>C	ENST00000552951.1	+	2	233	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	C12orf45_ENST00000280749.5_Missense_Mutation_p.E64Q	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	64										large_intestine(1)|lung(2)	3						AGTTCGGATAGAGAGGAGTCC	0.478000													8	37					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765418	7765418	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:7765418T>C	ENST00000358415.4	+	9	1038	c.872T>C	c.(871-873)tTt>tCt	p.F291S	ITIH2_ENST00000379587.4_Missense_Mutation_p.F280S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	291					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCAGGTGTTTAATGGATAT	0.443000													9	102					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43797571	43797571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:43797571C>T	ENST00000403856.1	-	15	2290	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	THADA_ENST00000330266.7_Missense_Mutation_p.E425K|THADA_ENST00000405975.2_Missense_Mutation_p.E715K|THADA_ENST00000402360.2_Missense_Mutation_p.E715K|THADA_ENST00000405006.4_Missense_Mutation_p.E715K|THADA_ENST00000404790.1_Missense_Mutation_p.E715K|THADA_ENST00000415080.2_Missense_Mutation_p.E425K			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	715							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTGGTTAACTCATTCTCTGGT	0.313000													6	46					0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87289889	87289889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:87289889G>C	ENST00000263780.4	+	2	313	c.75G>C	c.(73-75)caG>caC	p.Q25H	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000494980.1_Missense_Mutation_p.Q25H	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	25					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAGGTACACAGAGGGCTATAA	0.318000													9	74					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7311985	7311985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:7311985G>C	ENST00000302926.2	+	1	484	c.411G>C	c.(409-411)caG>caC	p.Q137H	NLGN2_ENST00000575301.1_Missense_Mutation_p.Q137H	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	137					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGCAGAACCAGAGCGAGGACT	0.672000													3	21					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419897	56419897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:56419897G>A	ENST00000407595.2	+	2	1064	c.562G>A	c.(562-564)Gac>Aac	p.D188N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	188										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTCCATCGACAGCCAGGC	0.627000													3	51					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122929402	122929402	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:122929402T>C	ENST00000534624.1	-	7	1736	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	HSPA8_ENST00000534319.1_Missense_Mutation_p.N251S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N468S|HSPA8_ENST00000227378.3_Missense_Mutation_p.N487S|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.N487S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N341S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	487					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCAGAGACATTGAGTATACC	0.453000													11	69					0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36606535	36606535	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:36606535G>C	ENST00000221855.3	+	1	648	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000589996.1_Missense_Mutation_p.E25Q	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	25					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCCGCTCCGAGAAGCGATA	0.662000													3	19					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703896	47703896	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:47703896T>C	ENST00000254480.5	-	20	2205	c.2086A>G	c.(2086-2088)Atg>Gtg	p.M696V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	696					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACAGTACTCATAACTGGATTT	0.517000													6	24					0	0	1	0	0
MYL12A	10627	broad.mit.edu	37	18	3255818	3255818	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr18:3255818G>A	ENST00000217652.3	+	4	813	c.418G>A	c.(418-420)Gag>Aag	p.E140K	MYL12A_ENST00000578611.1_Missense_Mutation_p.E140K|MYL12A_ENST00000536605.1_Missense_Mutation_p.E140K|MYL12A_ENST00000580887.1_Missense_Mutation_p.E146K|RP13-270P17.1_ENST00000578800.1_RNA|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Missense_Mutation_p.E140K	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	140	EF-hand 3.					myosin complex	calcium ion binding|protein binding			NS(1)|kidney(2)|large_intestine(2)	5						GGAAGTGGATGAGCTGTACAG	0.438000													8	22					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038970	11038970	+	RNA	SNP	G	G	A	rs594457	by1000genomes	TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:11038970G>A	ENST00000470054.1	-	0	1233									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCTGTCTCAGATGATAACTT	0.418000													14	364					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959954	13959954	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:13959954C>T	ENST00000382080.1	-	7	1390	c.675G>A	c.(673-675)gtG>gtA	p.V225V	SGCZ_ENST00000421524.2_Silent_p.V178V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	212					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGCAGCACTCACCTGGACCC	0.493000													6	46					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627361	46627361	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:46627361C>T	ENST00000341415.2	-	3	156	c.132G>A	c.(130-132)ggG>ggA	p.G44G	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	44						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGATCTTGTTCCCACACCTGG	0.547000													8	62					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36212422	36212422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:36212422C>G	ENST00000420124.1	+	3	2173	c.2173C>G	c.(2173-2175)Cca>Gca	p.P725A	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.P725A|KMT2B_ENST00000341701.1_Silent_p.L580L					lysine (K)-specific methyltransferase 2B																		TCACGGGGCTCCAGCTCTGAG	0.667000													5	40					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089627	32089627	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:32089627G>C	ENST00000438447.1	+	20	6461	c.6073G>C	c.(6073-6075)Gag>Cag	p.E2025Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.E2025Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	2025					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGTAGAGCAGAGGGCAGGGC	0.627000													16	219					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760075	102760075	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:102760075C>A	ENST00000417955.1	-	3	1044	c.890G>T	c.(889-891)aGa>aTa	p.R297I	NAPEPLD_ENST00000341533.4_Missense_Mutation_p.R297I|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.R297I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.R297I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.R370I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	297					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGGTCCAAATCTTTTTCCTAT	0.433000													4	41					0.150653	0.151604	1	1	0
CYLD	1540	broad.mit.edu	37	16	50825577	50825577	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:50825577C>T	ENST00000540145.1	+	15	2632	c.2217C>T	c.(2215-2217)atC>atT	p.I739I	CYLD_ENST00000569418.1_Silent_p.I736I|CYLD_ENST00000564326.1_Silent_p.I736I|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Silent_p.I739I|CYLD_ENST00000427738.3_Silent_p.I739I|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Silent_p.I554I|CYLD_ENST00000398568.2_Silent_p.I736I|CYLD_ENST00000566206.1_Silent_p.I736I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	739					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGTCTTTTATCAACAGTAACC	0.348000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				14	59					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157150436	157150436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:157150436C>T	ENST00000346085.5	+	2	1619	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	540					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTCTCAGCCTCAGCAGAGCAG	0.567000													5	70					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139703091	139703091	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:139703091G>A	ENST00000303045.6	-	36	3227	c.2781C>T	c.(2779-2781)ccC>ccT	p.P927P	COL22A1_ENST00000435777.1_Silent_p.P927P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	927	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACTGGGACCGGGGGCACCGA	0.547000										HNSCC(7;0.00092)			5	20					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231348	21231348	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:21231348C>G	ENST00000233242.1	-	26	8519	c.8392G>C	c.(8392-8394)Gag>Cag	p.E2798Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2798					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATTTGGACTCTCCTTTGGCA	0.433000													6	84					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720153	95720153	+	RNA	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:95720153G>A	ENST00000480546.1	-	0	1144					NR_002319.2																						ATTCCGGGCAGGGATGCCACC	0.507000													9	54					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91812991	91812991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:91812991A>T	ENST00000370425.3	-	19	2347	c.2249T>A	c.(2248-2250)tTa>tAa	p.L750*	HFM1_ENST00000370424.3_Nonsense_Mutation_p.L429*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	750							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAACCTTGTAATTTTGCTTC	0.274000													4	77					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365137	37365137	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:37365137C>G	ENST00000361924.2	+	14	2134	c.1760C>G	c.(1759-1761)tCa>tGa	p.S587*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.S609*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	587	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAAATCAGTCAAAAGATTTG	0.308000													14	51					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70170529	70170529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:70170529G>T	ENST00000253925.7	+	3	501	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E96*|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	96					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACTTACTAAAGAACTCAATGT	0.398000													13	130					0.00244969	0.00255377	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85571797	85571797	+	Silent	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:85571797G>T	ENST00000295802.4	-	7	1288	c.1176C>A	c.(1174-1176)atC>atA	p.I392I	RETSAT_ENST00000457495.2_Silent_p.I331I|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Silent_p.I392I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	392					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.I392M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592000													4	38					0.150653	0.151604	1	1	0
WRN	7486	broad.mit.edu	37	8	30938631	30938631	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:30938631T>C	ENST00000298139.5	+	9	1337	c.1088T>C	c.(1087-1089)cTt>cCt	p.L363P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	363					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGATGTACTTGGAAATAAA	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				3	43					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113826395	113826395	+	Silent	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:113826395C>G	ENST00000280800.3	+	12	1765	c.1734C>G	c.(1732-1734)ctC>ctG	p.L578L	PLBD2_ENST00000545182.2_Silent_p.L546L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	578					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCCAGACCTCTGGAAGTTCG	0.662000													6	49					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101251514	101251514	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:101251514A>G	ENST00000388798.2	+	17	2353	c.2162A>G	c.(2161-2163)gAt>gGt	p.D721G	SPAG1_ENST00000251809.3_Missense_Mutation_p.D721G	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	721					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATCCTACTAGATCCAAGTATT	0.348000													20	81					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571159	85571159	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:85571159G>A	ENST00000295802.4	-	9	1608	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	RETSAT_ENST00000457495.2_Missense_Mutation_p.S438L|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	499					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CAGGACCACTGACATAGAGGC	0.537000													8	116					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74075550	74075550	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:74075550C>A	ENST00000334586.5	+	2	211	c.128C>A	c.(127-129)tCc>tAc	p.S43Y	ZACN_ENST00000392503.2_Missense_Mutation_p.S43Y	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	43					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GTCAACTTGTCCAAGAAGGTT	0.527000													6	51					3.59834e-05	3.86488e-05	1	1	0
USP28	57646	broad.mit.edu	37	11	113674600	113674600	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:113674600C>G	ENST00000003302.4	-	22	2727		c.e22-1		USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATGCCACTTCTGAAAAAGAA	0.313000													3	37					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861592	55861592	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:55861592C>T	ENST00000302124.2	+	1	840	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453000													11	45					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149749	202149749	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:202149749C>G	ENST00000358485.4	+	8	1386	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C	CASP8_ENST00000264275.5_Missense_Mutation_p.S355C|CASP8_ENST00000323492.7_Missense_Mutation_p.S323C|CASP8_ENST00000264274.9_Missense_Mutation_p.S254C|CASP8_ENST00000432109.2_Missense_Mutation_p.S338C|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	338					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.S355C(2)|p.S397C(1)|p.S355F(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGCTGACATCTCAGTTCACT	0.478000										HNSCC(4;0.00038)			6	114					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197023309	197023309	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:197023309G>C	ENST00000346964.2	-	3	248	c.59C>G	c.(58-60)tCa>tGa	p.S20*	DLG1_ENST00000448528.2_Nonsense_Mutation_p.S20*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.S20*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.S20*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Nonsense_Mutation_p.S20*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.S20*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.S20*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.S20*	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	20	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GCTTAGTTTTGAACGATATTC	0.378000													17	72					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103869	52103869	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:52103869C>G	ENST00000361781.2	-	7	965	c.6G>C	c.(4-6)aaG>aaC	p.K2N	SGMS1_ENST00000361543.2_Missense_Mutation_p.K2N|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	8					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AAACCACTTCCTTCATTGTAC	0.557000													8	41					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117844198	117844198	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:117844198C>G	ENST00000350763.4	-	6	2668	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H	TNC_ENST00000423613.2_Missense_Mutation_p.D753H|TNC_ENST00000341037.4_Missense_Mutation_p.D753H|TNC_ENST00000346706.3_Missense_Mutation_p.D753H|TNC_ENST00000535648.1_Missense_Mutation_p.D753H|TNC_ENST00000340094.3_Missense_Mutation_p.D753H|TNC_ENST00000537320.1_Missense_Mutation_p.D753H|TNC_ENST00000542877.1_Missense_Mutation_p.D753H|TNC_ENST00000345230.3_Missense_Mutation_p.D753H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	753	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTCCCTCATCTTCTTTATTC	0.458000													12	68					0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11710940	11710940	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:11710940G>A	ENST00000353047.6	-	2	277	c.24C>T	c.(22-24)ctC>ctT	p.L8L	CTSB_ENST00000415599.2_Silent_p.L8L|CTSB_ENST00000531089.1_Silent_p.L8L|CTSB_ENST00000453527.2_Silent_p.L8L|CTSB_ENST00000345125.3_Silent_p.L8L|CTSB_ENST00000434271.1_Silent_p.L8L|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000534510.1_Silent_p.L8L|CTSB_ENST00000533455.1_Silent_p.L8L|CTSB_ENST00000530640.2_Silent_p.L8L	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	8					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCAGGCAGCAGAGGGAGGCCC	0.592000													4	44					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19468563	19468563	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr22:19468563G>A	ENST00000407835.1	+	4	455	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.E67K|CDC45_ENST00000404724.3_Missense_Mutation_p.E67K|CDC45_ENST00000437685.2_Missense_Mutation_p.E67K			O75419	CDC45_HUMAN	cell division cycle 45	67					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGAGCATAAAGAACAGGTATT	0.403000													6	34					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381883	62381883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:62381883C>G	ENST00000534093.1	+	2	289	c.116C>G	c.(115-117)tCt>tGt	p.S39C	ROM1_ENST00000278833.3_Silent_p.L248L			Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	0					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						ACCAAAACCTCTGGGCCCAAG	0.607000													5	57					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673298	151673298	+	Silent	SNP	C	C	T	rs151129363	by1000genomes	TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:151673298C>T	ENST00000402676.2	+	4	4012	c.3772C>T	c.(3772-3774)Ctg>Ttg	p.L1258L	AKAP12_ENST00000354675.6_Silent_p.L1160L|AKAP12_ENST00000359755.5_Silent_p.L1153L|AKAP12_ENST00000253332.1_Silent_p.L1258L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1258					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTATCCATTCTGTCAAAGAC	0.428000													13	45					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514903	44514903	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:44514903A>C	ENST00000429154.2	+	5	940	c.712A>C	c.(712-714)Ata>Cta	p.I238L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATGTAGAGCGATACTTCAAGT	0.433000													6	112					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135389	85135389	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:85135389A>G	ENST00000437941.2	-	3	672	c.320T>C	c.(319-321)cTa>cCa	p.L107P	SSX2IP_ENST00000370612.4_Missense_Mutation_p.L134P|SSX2IP_ENST00000605755.1_Missense_Mutation_p.L107P|SSX2IP_ENST00000342203.3_Missense_Mutation_p.L134P|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	134					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCAGCTCTGTAGATGGTCCAT	0.348000													7	88					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156929	26156929	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:26156929C>G	ENST00000304218.3	+	1	371	c.311C>G	c.(310-312)tCc>tGc	p.S104C		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	104	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCGTCGGGTTCCTTCAAACTC	0.602000													4	54					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42529684	42529684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:42529684C>G	ENST00000389834.4	-	9	1078	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	TMEM87A_ENST00000448392.1_Missense_Mutation_p.E211Q	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	272						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACAGCTTTCTCAAGCATTCCC	0.458000													6	63					0	0	1	0	0
GRPEL1	80273	broad.mit.edu	37	4	7064149	7064149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:7064149C>G	ENST00000264954.4	-	3	434	c.270G>C	c.(268-270)caG>caC	p.Q90H	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	90					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCTGGCTCCTCTGCCGTAAGT	0.358000													28	96					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284601	152284601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:152284601C>T	ENST00000368799.1	-	3	2796	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	921	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGATGTCGGCATGAGAG	0.557000									Ichthyosis				15	284					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11215960	11215960	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:11215960C>T	ENST00000558518.1	+	4	565	c.378C>T	c.(376-378)ttC>ttT	p.F126F	LDLR_ENST00000558013.1_Silent_p.F126F|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Silent_p.F85F|LDLR_ENST00000557933.1_Silent_p.F126F|LDLR_ENST00000455727.2_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	126	LDL-receptor class A 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTCGGCAGTTCGTCTGTGACT	0.637000													30	180					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224407	77224407	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:77224407T>C	ENST00000458128.1	-	1	728	c.729A>G	c.(727-729)atA>atG	p.I243M	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	243					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCACAGCTTCTATGGCTTTGC	0.567000													3	40					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452831	48452831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:48452831G>A	ENST00000393271.2	+	2	344	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	EME1_ENST00000511648.2_Missense_Mutation_p.E88K|EME1_ENST00000338165.4_Missense_Mutation_p.E88K	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	88					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGTGAAAGTGAAGATGAAGA	0.463000								Direct reversal of damage;Homologous recombination					6	83					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766568	3766568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:3766568G>A	ENST00000379751.4	-	1	769	c.563C>T	c.(562-564)tCg>tTg	p.S188L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	188					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CACGTCCTGCGAGGCGTAGCC	0.731000													18	50					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446945	11446945	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:11446945A>G	ENST00000423059.4	-	20	4155	c.3904T>C	c.(3904-3906)Tgt>Cgt	p.C1302R	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGAGGCCACATGTTTGAGAA	0.413000										HNSCC(18;0.044)			4	9					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100957868	100957868	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:100957868C>G	ENST00000369162.2	-	41	6745	c.6401G>C	c.(6400-6402)gGa>gCa	p.G2134A		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2134	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCGAATATATCCTACTCTTTT	0.348000													18	175					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57741530	57741530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:57741530G>A	ENST00000261558.3	+	2	1049	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	AP5M1_ENST00000431972.2_Missense_Mutation_p.E229K	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	215	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											TTCTATCACTGAAAAGGTAAA	0.393000													7	66					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80394560	80394560	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:80394560C>G	ENST00000265361.3	-	13	1916		c.e13-1		SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTACCCCGATCTAAATTAAAA	0.353000													6	47					0	0	1	0	0
GEMIN2	8487	broad.mit.edu	37	14	39583561	39583561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:39583561G>T	ENST00000308317.6	+	1	135	c.52G>T	c.(52-54)Gag>Tag	p.E18*	GEMIN2_ENST00000396249.2_Nonsense_Mutation_p.E18*|GEMIN2_ENST00000250379.8_Nonsense_Mutation_p.E18*	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	18					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GGTACCAGCGGAGTCCGCAGT	0.597000													7	25					0.000274275	0.000287808	1	1	0
BIN2	51411	broad.mit.edu	37	12	51685995	51685995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:51685995G>C	ENST00000267012.4	-	10	956	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V	BIN2_ENST00000452142.2_Missense_Mutation_p.L267V|BIN2_ENST00000544402.1_Missense_Mutation_p.L273V|BIN2_ENST00000604560.1_Missense_Mutation_p.L272V	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	299						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCAGGTGCCAGATCTTCAGTT	0.478000													8	84					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747378	21747378	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:21747378T>G	ENST00000328843.6	+	41	6660	c.6629T>G	c.(6628-6630)tTa>tGa	p.L2210*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.L2203*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2210	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAATGACTTAAACCCTAAA	0.393000									Kartagener syndrome				5	30					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494236	128494236	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:128494236G>A	ENST00000325888.8	+	40	6954	c.6693G>A	c.(6691-6693)ctG>ctA	p.L2231L	FLNC_ENST00000346177.6_Silent_p.L2198L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2231	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGAGCGCCTGGGATCCTTCG	0.716000													6	14					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183520998	183520998	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:183520998G>C	ENST00000367537.3	+	24	3640	c.3445G>C	c.(3445-3447)Gag>Cag	p.E1149Q	SMG7_ENST00000347615.2_Missense_Mutation_p.E1116Q|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000508461.1_Missense_Mutation_p.E1124Q|SMG7_ENST00000456731.2_Missense_Mutation_p.E1028Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E1070Q			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1116					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTCTGCTCTGGAGCAGCTGTT	0.512000													3	23					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979382	124979382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:124979382G>C	ENST00000368417.1	+	4	384	c.324G>C	c.(322-324)tgG>tgC	p.W108C	NKAIN2_ENST00000545433.1_Missense_Mutation_p.W93C|NKAIN2_ENST00000368416.1_Missense_Mutation_p.W108C|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	108						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GATCTTGGTGGATGGAGAATG	0.468000													7	55					0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47838777	47838777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:47838777G>A	ENST00000371873.5	+	3	618	c.469G>A	c.(469-471)Gag>Aag	p.E157K	CMPK1_ENST00000450808.2_Missense_Mutation_p.E108K	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	125					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	CTGTAATAATGAGGTAATGAA	0.343000													10	35					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150090851	150090851	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:150090851C>T	ENST00000447998.2	-	13	1358	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	DCTN4_ENST00000446090.2_Missense_Mutation_p.V422M|DCTN4_ENST00000424236.1_Missense_Mutation_p.V358M	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	415						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACGGTCACTTCACCCTCC	0.443000													18	66					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40692172	40692172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:40692172G>A	ENST00000302472.3	+	3	2183	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	387					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGAGCTGAAGGAGATCAGCAG	0.582000													3	31					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51686045	51686045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:51686045G>C	ENST00000267012.4	-	10	906	c.845C>G	c.(844-846)tCt>tGt	p.S282C	BIN2_ENST00000452142.2_Missense_Mutation_p.S250C|BIN2_ENST00000544402.1_Missense_Mutation_p.S256C|BIN2_ENST00000604560.1_Missense_Mutation_p.S255C	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	282						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGAAAGTGTAGAGGGACTAGT	0.493000													9	70					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137525538	137525538	+	Silent	SNP	G	G	A	rs80062019		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:137525538G>A	ENST00000367739.4	-	4	598	c.477C>T	c.(475-477)gtC>gtT	p.V159V	IFNGR1_ENST00000367735.2_Silent_p.V149V|IFNGR1_ENST00000543628.1_Silent_p.V131V	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	159					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GATCATAATCGACTTCCTGCT	0.378000													6	80					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171027	104171027	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:104171027G>A	ENST00000374861.3	+	3	1219	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	ZNF189_ENST00000259395.4_Missense_Mutation_p.R284Q|ZNF189_ENST00000339664.2_Missense_Mutation_p.R326Q	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAAGCCTTTCGATTAAGCACA	0.398000													27	79					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578179	7578179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:7578179C>A	ENST00000420246.2	-	6	802	c.670G>T	c.(670-672)Gag>Tag	p.E224*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E224*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.E224*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E224*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E224*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E224*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.?(13)|p.0?(8)|p.E224*(5)|p.E224K(5)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(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)		AACCAGACCTCAGGCGGCTCA	0.532000		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)			3	16					0.004672	0.00480764	1	1	0
GTPBP4	23560	broad.mit.edu	37	10	1058417	1058417	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:1058417T>G	ENST00000360803.4	+	14	1439	c.1357T>G	c.(1357-1359)Tta>Gta	p.L453V	GTPBP4_ENST00000538293.1_Missense_Mutation_p.L337V|GTPBP4_ENST00000545048.1_Missense_Mutation_p.L406V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	453					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATTGGAAGAATTAGAAAAAGA	0.418000													7	16					0	0	1	0	0
HSD17B8	7923	broad.mit.edu	37	6	33173674	33173674	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:33173674G>A	ENST00000374662.3	+	6	663	c.636G>A	c.(634-636)caG>caA	p.Q212Q	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	212				Q -> K (in Ref. 5; BAA11529).	estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	AAGTGCCACAGAAAGTGGTGG	0.537000													12	47					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7785174	7785174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:7785174G>C	ENST00000358415.4	+	17	2327	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	ITIH2_ENST00000379587.4_Missense_Mutation_p.D710H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	721					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCAATATTGACTCAGAACC	0.313000													16	340					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314900	172314900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:172314900G>C	ENST00000375255.3	+	8	1078	c.751G>C	c.(751-753)Gac>Cac	p.D251H	DCAF17_ENST00000539783.1_Missense_Mutation_p.D251H|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	251						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACAGAAACTTGACTTAGGGTG	0.378000													5	75					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97299303	97299303	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:97299303G>C	ENST00000517309.1	+	4	696	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	124					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCTGAATTTCGAGCAGGTTAA	0.428000													25	136					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803759	142803759	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:142803759C>G	ENST00000370498.1	-	1	757	c.4G>C	c.(4-6)Gaa>Caa	p.E2Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	2										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGGCTGTTCCATGATTCTG	0.443000													31	85					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242438521	242438521	+	Silent	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:242438521G>C	ENST00000316586.4	-	7	1003	c.654C>G	c.(652-654)ctC>ctG	p.L218L	STK25_ENST00000401869.1_Silent_p.L218L|STK25_ENST00000403346.3_Silent_p.L218L|STK25_ENST00000535007.1_Silent_p.L124L|STK25_ENST00000543554.1_Silent_p.L124L|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Silent_p.L141L|STK25_ENST00000405883.3_Silent_p.L141L	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	218	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCATGGGGTGGAGGTCAGAGT	0.612000													5	48					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168250519	168250519	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:168250519C>G	ENST00000367821.3	+	1	242	c.191C>G	c.(190-192)aCc>aGc	p.T64S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	64					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ATGATTGTGACCAAGAATGGC	0.532000													4	57					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154548389	154548389	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:154548389C>G	ENST00000368476.3	+	6	1754	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	497					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCAGACCACTCAGCCCCCAGC	0.562000													12	53					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158160	102158160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:102158160C>G	ENST00000299314.7	-	13	2797	c.2535G>C	c.(2533-2535)caG>caC	p.Q845H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	845					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTTTTGTCATCTGGCTTTCCA	0.403000													20	126					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86284123	86284123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:86284123G>A	ENST00000376395.4	-	7	1748	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	UBQLN1_ENST00000257468.7_Nonsense_Mutation_p.Q409*	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	409					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCAGGATTCTGGCTTAGTGAC	0.398000													13	45					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32706501	32706501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:32706501C>G	ENST00000421745.2	+	38	7656	c.7522C>G	c.(7522-7524)Ctt>Gtt	p.L2508V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2508					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAGGACCCTCTTGCAGCCAA	0.428000													4	23					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89427164	89427164	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:89427164G>C	ENST00000260508.4	-	7	903	c.566C>G	c.(565-567)tCt>tGt	p.S189C	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.S155C	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	189					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTCAGAACTAGACCATCTTTT	0.313000													3	47					0	0	1	0	0
UBE2T	29089	broad.mit.edu	37	1	202302662	202302662	+	Missense_Mutation	SNP	C	C	A	rs148291042		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:202302662C>A	ENST00000367274.4	-	4	350	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	67					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						GAAATCGGATCTGAGGAGGTT	0.343000													6	29					0.00116845	0.00122208	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767483	77767483	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:77767483G>A	ENST00000521891.2	+	10	8774	c.8326G>A	c.(8326-8328)Gag>Aag	p.E2776K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2750K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2731K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2731K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2731						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTAAAGCAGAGTGTTCTGA	0.403000										HNSCC(33;0.089)			9	26					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452825	48452825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:48452825G>A	ENST00000393271.2	+	2	338	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	EME1_ENST00000511648.2_Missense_Mutation_p.E86K|EME1_ENST00000338165.4_Missense_Mutation_p.E86K	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	86					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GCTAAGCAGTGAAAGTGAAGA	0.473000								Direct reversal of damage;Homologous recombination					6	79					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2314627	2314627	+	Silent	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:2314627C>A	ENST00000565678.1	-	2	563	c.18G>T	c.(16-18)gtG>gtT	p.V6V	RNPS1_ENST00000301730.8_Silent_p.V6V|RNPS1_ENST00000568631.1_Silent_p.V6V|RNPS1_ENST00000397086.2_Silent_p.V6V|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000320225.5_Silent_p.V6V|RNPS1_ENST00000569598.2_Silent_p.V6V|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000566458.1_Intron			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	6	Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TCTTCTTTTTCACTCCTGATA	0.408000													4	52					2.56e-06	2.78717e-06	1	1	0
GATAD2A	54815	broad.mit.edu	37	19	19606977	19606977	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:19606977C>T	ENST00000404158.1	+	9	1291	c.873C>T	c.(871-873)ctC>ctT	p.L291L	GATAD2A_ENST00000360315.3_Silent_p.L291L|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000358713.3_Silent_p.L291L|GATAD2A_ENST00000429563.2_Silent_p.L118L|GATAD2A_ENST00000252577.5_Silent_p.L291L			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	291					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGCAGGGCCTCATCCGCGTCG	0.652000													5	47					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694673	143694673	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:143694673C>A	ENST00000356613.2	-	1	2160	c.960G>T	c.(958-960)gaG>gaT	p.E320D		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	320					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTGGATGATCTCCTCCTCGT	0.657000													5	40					0.184627	0.185208	1	1	0
LPAR1	1902	broad.mit.edu	37	9	113704446	113704446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:113704446G>C	ENST00000374431.3	-	4	431	c.48C>G	c.(46-48)ttC>ttG	p.F16L	LPAR1_ENST00000358883.4_Missense_Mutation_p.F16L|LPAR1_ENST00000538760.1_Missense_Mutation_p.F17L|LPAR1_ENST00000374430.2_Missense_Mutation_p.F16L|LPAR1_ENST00000541779.1_Missense_Mutation_p.F17L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TCATGGCTGTGAACTAAAAGA	0.378000													14	33					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156581	94156581	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:94156581C>T	ENST00000553484.1	+	47	7541	c.7387C>T	c.(7387-7389)Ctg>Ttg	p.L2463L	UNC79_ENST00000555664.1_Silent_p.L2402L|UNC79_ENST00000393151.2_Silent_p.L2441L|UNC79_ENST00000256339.4_Silent_p.L2264L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2441						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCCATTCCTCTGGATGCAGG	0.507000													5	54					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952578	44952578	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:44952578G>A	ENST00000296125.4	+	12	1803	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	579					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CATGGCCTCTGAAGTATTCAC	0.473000													8	69					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113650242	113650242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:113650242G>A	ENST00000361127.5	+	12	1538	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		LRRCT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGTTTGCTCTGTGACTGCCAT	0.393000													13	69					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10563186	10563186	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:10563186C>T	ENST00000381765.3	+	5	982	c.456C>T	c.(454-456)atC>atT	p.I152I	HPCAL1_ENST00000307845.3_Silent_p.I152I	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	152	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CAGACAAGATCTTCAGGCAGA	0.592000													11	56					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193361161	193361161	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:193361161G>C	ENST00000361510.2	+	14	1539		c.e14-1		OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000392438.3_Splice_Site|OPA1_ENST00000361715.2_Splice_Site	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCCTGAGTAGACCATATCCT	0.313000													5	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088735	9088735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:9088735G>A	ENST00000397910.4	-	1	3283	c.3080C>T	c.(3079-3081)aCg>aTg	p.T1027M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1027	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGCCATTCGTGGTCTCTGT	0.473000													4	130					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643916	53643916	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:53643916G>C	ENST00000452676.2	-	5	2594	c.2168C>G	c.(2167-2169)tCa>tGa	p.S723*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S722*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S723*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTTAGGCTTGAACGGACACT	0.428000													12	140					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89657021	89657021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:89657021G>A	ENST00000355754.6	-	6	936	c.839C>T	c.(838-840)tCa>tTa	p.S280L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	280						cytoplasm	GTP binding|GTPase activity			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)		GAAGTTGTCTGATTGCATAAG	0.408000													10	92					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664142	123664142	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:123664142G>C	ENST00000542236.1	+	3	1476	c.1095G>C	c.(1093-1095)gaG>gaC	p.E365D	BBS12_ENST00000314218.3_Missense_Mutation_p.E365D	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	365					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACCTCACAGAGAATTACCGCC	0.413000									Bardet-Biedl syndrome				4	39					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256793	240256793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:240256793G>A	ENST00000319653.9	+	1	1614	c.1384G>A	c.(1384-1386)Gta>Ata	p.V462I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	462					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGGCCTCCGTAGCCGCCCC	0.721000													6	37					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536066	166536066	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:166536066G>A	ENST00000314499.7	+	7	1937	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	CSRNP3_ENST00000342316.4_Missense_Mutation_p.E521K|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E553K	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	521					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TTTATATCCTGAACACAGGTC	0.488000													5	42					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884395	24884395	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:24884395C>T	ENST00000382554.3	+	9	3758	c.3440C>T	c.(3439-3441)tCt>tTt	p.S1147F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1147					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCTGGTGTCTGCCCTCTGC	0.662000													8	33					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667299	33667299	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:33667299C>G	ENST00000321505.4	+	16	4766	c.4586C>G	c.(4585-4587)tCt>tGt	p.S1529C	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1535C					KIAA1549-like																		TATTCCAGGTCTCGACAGGTG	0.552000													9	48					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997260	61997260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:61997260G>A	ENST00000332981.5	+	12	2093	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.M74I|PRKCH_ENST00000555082.1_Missense_Mutation_p.E409K	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	570	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACTGAATGATGAGGTGGTCTA	0.502000													20	93					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119181112	119181112	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:119181112C>G	ENST00000264036.4	-	15	1872	c.1858G>C	c.(1858-1860)Gag>Cag	p.E620Q	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	620					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGGCCCATCTCTTCTGGGAGC	0.602000													14	77					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212538680	212538680	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:212538680G>A	ENST00000261455.4	-	8	1067	c.930C>T	c.(928-930)ctC>ctT	p.L310L	TMEM206_ENST00000535273.1_Silent_p.L371L	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	310						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AGGCGCCACAGAGAAGAGCAA	0.373000													11	65					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81943477	81943477	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:81943477C>G	ENST00000336735.4	-	21	2340	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	742	Mediates retention to the endoplasmic reticulum.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGGTCCCACTCAGGTCCCAAA	0.453000													18	54					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248506	59248506	+	Silent	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:59248506C>G	ENST00000371222.2	-	1	1279	c.237G>C	c.(235-237)ctG>ctC	p.L79L		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	79					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	ACTGGATTATCAGGCGCTCCA	0.667000			A		sarcoma								6	76					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6031504	6031504	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:6031504G>C	ENST00000378858.4	-	3	1005	c.781C>G	c.(781-783)Cag>Gag	p.Q261E		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	261						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGGGAGTCCTGACAGTCCAGC	0.542000													5	72					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503511	90503511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:90503511G>C	ENST00000325643.5	+	4	4175	c.4109G>C	c.(4108-4110)aGa>aCa	p.R1370T		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GAACGTAGCAGAGAGATGAGA	0.597000													8	29					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144709638	144709638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:144709638C>T	ENST00000392869.2	-	10	1356	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	GTDC1_ENST00000392867.3_Missense_Mutation_p.E317K|GTDC1_ENST00000409214.1_Missense_Mutation_p.E402K|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Missense_Mutation_p.E317K|GTDC1_ENST00000463875.2_Missense_Mutation_p.E273K|GTDC1_ENST00000542155.1_Missense_Mutation_p.E402K|GTDC1_ENST00000409298.1_Missense_Mutation_p.E284K|GTDC1_ENST00000344850.4_Missense_Mutation_p.E402K	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TACAGATATTCAGCTGCAGGA	0.328000													11	59					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129909918	129909918	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:129909918C>G	ENST00000368654.3	-	11	2626	c.2251G>C	c.(2251-2253)Gat>Cat	p.D751H	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.D391H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	751					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAAAGATCTTCCTTAAAG	0.343000													13	55					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814814	2814814	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:2814814G>C	ENST00000301740.8	+	11	4834	c.4285G>C	c.(4285-4287)Gat>Cat	p.D1429H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1429	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGAAATGAAAGATGGTTTACC	0.502000													11	136					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320815	79320815	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:79320815C>A	ENST00000428286.1	-	8	6498	c.5298G>T	c.(5296-5298)atG>atT	p.M1766I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M2125I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2125					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCAGGTCCCATGCAAGCAC	0.493000													5	115					0.014758	0.0150409	1	1	0
TEC	7006	broad.mit.edu	37	4	48169934	48169934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:48169934C>T	ENST00000381501.3	-	7	689	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	178					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCACTATTATCTTCTTCTTCT	0.378000													21	84					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123927	65123927	+	Silent	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:65123927C>G	ENST00000309880.5	+	2	855	c.648C>G	c.(646-648)ctC>ctG	p.L216L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	216	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGGGTGGGCTCCAGGCTGCCC	0.637000													15	103					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67808531	67808531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:67808531G>A	ENST00000422365.2	+	11	1577	c.1406G>A	c.(1405-1407)aGg>aAg	p.R469K	MCMDC2_ENST00000396592.3_Missense_Mutation_p.R469K|MCMDC2_ENST00000541540.1_Missense_Mutation_p.R406K|MCMDC2_ENST00000313616.5_Missense_Mutation_p.R469K	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	469					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TCATCTTCAAGGAGAAATGCA	0.338000													17	89					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238661	48238661	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:48238661C>A	ENST00000309562.2	+	1	318	c.300C>A	c.(298-300)ttC>ttA	p.F100L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCAGATATTCTTCTTCCACT	0.418000													18	118					5.03518e-11	5.57716e-11	1	1	0
DMD	1756	broad.mit.edu	37	X	32361349	32361349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:32361349G>A	ENST00000357033.4	-	40	5847	c.5641C>T	c.(5641-5643)Cag>Tag	p.Q1881*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1877*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1881	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTTGTACTGATACCACTGA	0.368000													11	23					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123957	65123957	+	Missense_Mutation	SNP	C	C	G	rs145521264		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:65123957C>G	ENST00000309880.5	+	2	885	c.678C>G	c.(676-678)atC>atG	p.I226M		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	226	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCTTTGGGATCCGCAGTGAGG	0.637000													11	101					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154532	22154532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:22154532C>A	ENST00000397126.4	-	4	3452	c.3304G>T	c.(3304-3306)Gaa>Taa	p.E1102*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTTATGTTCCATAAGGTTT	0.398000													4	99					0.00024832	0.000262298	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77317466	77317466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:77317466C>G	ENST00000388914.3	-	3	396	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	CCDC158_ENST00000434846.2_Missense_Mutation_p.E82Q|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	82										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTGAATATTCTTCCAAAACA	0.398000													3	41					0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17389748	17389748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:17389748G>A	ENST00000359435.4	+	9	1074	c.881G>A	c.(880-882)tGc>tAc	p.C294Y	CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000595632.1_Missense_Mutation_p.C219Y|BABAM1_ENST00000601043.1_Missense_Mutation_p.C294Y|BABAM1_ENST00000447614.2_Missense_Mutation_p.C294Y|BABAM1_ENST00000598188.1_Missense_Mutation_p.C294Y	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	294	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TTGCACAACTGCATGGCGAAA	0.597000													3	23					0	0	1	0	0
RPS29	6235	broad.mit.edu	37	14	50052766	50052766	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:50052766G>C	ENST00000396020.3	-	2	93	c.64C>G	c.(64-66)Cgt>Ggt	p.R22G	RPS29_ENST00000245458.6_Splice_Site_p.R22G|RPS29_ENST00000557111.1_5'UTR	NM_001030001.1	NP_001025172.1	P62273	RS29_HUMAN	ribosomal protein S29	22					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding			endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					GAACAGACACGACTGTAAGAA	0.507000													7	107					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49667525	49667525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:49667525C>T	ENST00000339139.4	-	6	499	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	88						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			actggttttgcggtcctctgG	0.338000													4	52					0	0	1	0	0
UBE2T	29089	broad.mit.edu	37	1	202302388	202302388	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:202302388C>A	ENST00000367274.4	-	5	510	c.361G>T	c.(361-363)Gat>Tat	p.D121Y		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	121					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						AGCGGGTCATCAGGGTTGGGT	0.468000													30	200					1.49673e-21	1.67529e-21	1	1	0
ARSH	347527	broad.mit.edu	37	X	2933398	2933398	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:2933398C>T	ENST00000381130.2	+	4	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	243						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAGTAGCTTCCCTCATGCTG	0.398000													5	25					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197720	23197720	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:23197720G>A	ENST00000300061.2	+	2	271	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	43					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTGTCGCCGCATCGTGGTG	0.627000													3	40					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207139	58207139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:58207139G>C	ENST00000302572.2	-	1	507	c.486C>G	c.(484-486)ttC>ttG	p.F162L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAGAGCCTGAAAGTGTTCC	0.448000													8	50					0	0	1	0	0
GSKIP	51527	broad.mit.edu	37	14	96848696	96848696	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:96848696G>C	ENST00000556095.1	+	3	1924	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	GSKIP_ENST00000554182.1_Missense_Mutation_p.E38Q|GSKIP_ENST00000555181.1_Missense_Mutation_p.E38Q|GSKIP_ENST00000438650.1_Missense_Mutation_p.E38Q	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		GCTCGAAGCTGAAGCAGTTGT	0.433000													9	89					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56291640	56291640	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:56291640C>T	ENST00000374928.3	+	4	595	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	KLF8_ENST00000468660.1_Missense_Mutation_p.P37S	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAACAGAGATCCCCCTGAGAT	0.418000													3	20					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435844	48435844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:48435844G>T	ENST00000017003.2	+	10	2267	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	740					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACCGCTGGGTGAGACCCGCTT	0.587000													5	24					1.024e-07	1.12253e-07	1	1	0
PIP4K2C	79837	broad.mit.edu	37	12	57994702	57994702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:57994702G>A	ENST00000354947.5	+	8	938	c.922G>A	c.(922-924)Gag>Aag	p.E308K	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.E290K|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.E308K|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.E260K			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	308	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGATGAGTCAGAGGTGGATGG	0.602000													17	97					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6684833	6684833	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:6684833C>T	ENST00000245907.6	-	31	4074	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1328					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGAAACCCTCATTTTCCTTG	0.552000													13	84					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921711	110921711	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:110921711C>A	ENST00000369779.4	-	6	1043	c.794G>T	c.(793-795)gGg>gTg	p.G265V	SLC16A4_ENST00000472422.2_Missense_Mutation_p.G217V|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.G203V|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G155V	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	265						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CCTGTTAGGCCCATTGTAGAA	0.383000													9	87					4.68919e-08	5.15811e-08	1	1	0
TRIM7	81786	broad.mit.edu	37	5	180625769	180625769	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:180625769G>A	ENST00000393315.1	-	5	982	c.285C>T	c.(283-285)gtC>gtT	p.V95V	TRIM7_ENST00000361809.3_Silent_p.V95V|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Silent_p.V121V|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000422067.2_Silent_p.V95V|TRIM7_ENST00000274773.7_Silent_p.V303V|CTC-338M12.6_ENST00000502812.2_RNA	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	303			Q -> E (in dbSNP:rs2770945).			cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TCTCAGAAGAGACTGTGGTTG	0.512000													3	31					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538366	38538366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:38538366G>C	ENST00000399017.2	+	33	6597	c.3850G>C	c.(3850-3852)Gag>Cag	p.E1284Q	TTC3_ENST00000355666.1_Missense_Mutation_p.E1284Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E1284Q|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1284					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACCAGGCTCTGAGGATGCAAA	0.458000													14	102					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41906179	41906179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:41906179G>A	ENST00000396930.3	-	3	860	c.317C>T	c.(316-318)gCa>gTa	p.A106V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A106V|KAT6A_ENST00000485568.1_Missense_Mutation_p.A106V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A106V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	106	H15.|Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GCCCTCAACTGCCCGCTTTAT	0.438000													13	90					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963761	73963761	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chrX:73963761T>C	ENST00000055682.6	-	3	1242	c.631A>G	c.(631-633)Aag>Gag	p.K211E		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCCTTGACTTATGCAGGGGG	0.458000													10	36					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566465	129566465	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:129566465C>A	ENST00000422113.2	-	7	2088	c.1762G>T	c.(1762-1764)Gcc>Tcc	p.A588S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.A126S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	588						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCAGGGCCGGCCGCCTCAGCC	0.642000													3	40					6.4e-05	6.82809e-05	1	1	0
MIF4GD	57409	broad.mit.edu	37	17	73266270	73266270	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:73266270C>T	ENST00000577542.1	-	2	269	c.7G>A	c.(7-9)Gag>Aag	p.E3K	MIF4GD_ENST00000325102.8_Missense_Mutation_p.E3K|MIF4GD_ENST00000579119.1_Missense_Mutation_p.E3K|MIF4GD_ENST00000578305.1_Missense_Mutation_p.E3K|MIF4GD_ENST00000580571.1_Missense_Mutation_p.E3K|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E3K|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E3K			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	3	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CTACTGGGCTCCCCCATGACT	0.587000													17	141					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156246951	156246951	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:156246951G>C	ENST00000361813.5	-	4	523	c.379C>G	c.(379-381)Ctc>Gtc	p.L127V	SMG5_ENST00000368267.5_Missense_Mutation_p.L127V	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	127					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGGATATAGAGAAGGAGATGC	0.537000													4	29					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35858416	35858416	+	Missense_Mutation	SNP	C	C	T	rs151311325	byFrequency	TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:35858416C>T	ENST00000237530.6	+	13	1846	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	RPN2_ENST00000373622.5_Missense_Mutation_p.S480L|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	512					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GAAGCTCCCTCGACTGTCTTG	0.468000													22	69					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497279	110497279	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:110497279G>A	ENST00000378402.5	+	58	9687	c.9583G>A	c.(9583-9585)Gaa>Aaa	p.E3195K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3195					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TAAGGAGGGAGAAGAGATTGT	0.274000										HNSCC(38;0.096)			6	26					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70269092	70269092	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:70269092G>A	ENST00000538675.1	+	0	148				CTTN_ENST00000346329.3_Silent_p.R279R|CTTN_ENST00000376561.3_Silent_p.R279R|CTTN_ENST00000301843.8_Silent_p.R316R			Q14247	SRC8_HUMAN	cortactin							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGAAGGATCGGATGGATAAGG	0.567000													19	45					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5399952	5399952	+	Silent	SNP	T	T	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:5399952T>C	ENST00000282908.5	+	5	875	c.453T>C	c.(451-453)aaT>aaC	p.N151N	STK32B_ENST00000512636.1_Silent_p.N104N|STK32B_ENST00000510398.1_Silent_p.N104N	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	151	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGCCAGACAATATCCTGCTGG	0.488000													30	91					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744789	70744789	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr8:70744789G>A	ENST00000260126.4	-	2	826	c.120C>T	c.(118-120)gtC>gtT	p.V40V	SLCO5A1_ENST00000530307.1_Silent_p.V40V|SLCO5A1_ENST00000524945.1_Silent_p.V40V|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGCTGCTGAGGACCGGTAAAC	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	80					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413043	43413043	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:43413043C>G	ENST00000310826.5	-	3	1345	c.1162G>C	c.(1162-1164)Gat>Cat	p.D388H	ZBTB21_ENST00000398511.3_Missense_Mutation_p.D388H|ZBTB21_ENST00000398505.3_Missense_Mutation_p.D388H|ZBTB21_ENST00000398499.1_Missense_Mutation_p.D388H|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TCACTACAATCTTTTAAAGAT	0.468000													3	40					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237276918	237276918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:237276918G>C	ENST00000409907.3	-	14	1862	c.1588C>G	c.(1588-1590)Ctt>Gtt	p.L530V	IQCA1_ENST00000431676.2_Missense_Mutation_p.L489V|IQCA1_ENST00000309507.5_Missense_Mutation_p.L527V|RP11-785G17.1_ENST00000605740.1_RNA	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	530							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACCTGGCGAAGAGTAGTCCCC	0.507000													3	10					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38104165	38104165	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:38104165C>T	ENST00000308059.6	+	5	988	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	DLEC1_ENST00000452631.2_Missense_Mutation_p.R323W|DLEC1_ENST00000346219.3_Missense_Mutation_p.R323W			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	323					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AATGGAGAGTCGGAACCACTT	0.448000													8	46					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26717916	26717916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:26717916C>T	ENST00000272371.2	-	9	917	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R264Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	264	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGCTGCCGGGCCTCGAT	0.612000													5	46					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49255182	49255182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:49255182C>A	ENST00000332408.4	-	1	459	c.31G>T	c.(31-33)Gga>Tga	p.G11*		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	11	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AGCACGAGTCCTGCCAGGCTG	0.577000													8	92					1.12685e-05	1.21853e-05	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120598036	120598036	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:120598036G>C	ENST00000300648.6	-	23	2472	c.2460C>G	c.(2458-2460)atC>atG	p.I820M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	820					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCTCTTTGATGCCTTTCT	0.577000													4	44					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869993	36869993	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:36869993C>G	ENST00000279024.4	-	3	811	c.540G>C	c.(538-540)aaG>aaC	p.K180N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	180										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGGTTATCTTGGTCCAAG	0.532000													7	100					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38293137	38293137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr14:38293137G>C	ENST00000553443.1	+	27	4949	c.4949G>C	c.(4948-4950)aGa>aCa	p.R1650T	TTC6_ENST00000382320.3_Missense_Mutation_p.R364T|TTC6_ENST00000267368.7_Missense_Mutation_p.R284T|TTC6_ENST00000476979.1_Missense_Mutation_p.R284T					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		ATAAAAGCCAGAATTAGTTTT	0.368000													11	60					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216256419	216256419	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr2:216256419C>T	ENST00000354785.4	-	26	4557	c.4188G>A	c.(4186-4188)gtG>gtA	p.V1396V	FN1_ENST00000346544.3_Silent_p.V1305V|FN1_ENST00000446046.1_Silent_p.V1305V|FN1_ENST00000357009.2_Silent_p.V1305V|FN1_ENST00000421182.1_Silent_p.V1305V|FN1_ENST00000345488.5_Silent_p.V1305V|FN1_ENST00000357867.4_Silent_p.V1305V|FN1_ENST00000443816.1_Silent_p.V1305V|FN1_ENST00000356005.4_Silent_p.V1305V|FN1_ENST00000323926.6_Silent_p.V1396V|FN1_ENST00000432072.2_Silent_p.V1396V|FN1_ENST00000336916.4_Silent_p.V1305V|FN1_ENST00000359671.1_Silent_p.V1305V			P02751	FINC_HUMAN	fibronectin 1	1395	Cell-attachment.|Fibronectin type-III 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCATTTTTCACAGGTGAGT	0.438000													6	73					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564371	37564371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr17:37564371G>A	ENST00000300651.6	-	17	4326	c.4103C>T	c.(4102-4104)tCc>tTc	p.S1368F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1368	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGAACTCCCGGAGGTGGAAAC	0.453000										HNSCC(31;0.082)			11	120					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12861667	12861667	+	Silent	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr3:12861667G>A	ENST00000456430.2	+	11	3068	c.3027G>A	c.(3025-3027)ctG>ctA	p.L1009L	CAND2_ENST00000295989.5_Silent_p.L916L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1009					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCCCCTCCTGAAGAGCTTCA	0.582000													7	49					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78429378	78429378	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:78429378C>A	ENST00000370767.1	-	13	1151	c.1064G>T	c.(1063-1065)gGa>gTa	p.G355V	FUBP1_ENST00000370768.2_Missense_Mutation_p.G355V|FUBP1_ENST00000436586.2_Missense_Mutation_p.G376V			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	355	Gly-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACCACCAGGTCCAGGTCCACC	0.423000			"""F, N"""		oligodendroglioma								5	31					8.12818e-05	8.64297e-05	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7684552	7684552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr4:7684552G>A	ENST00000507866.2	+	10	1533	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R303H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	475						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AACAAGGGCCGCGACTGGGAT	0.483000													3	7					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22359128	22359128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:22359128G>A	ENST00000268383.2	-	5	830	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	175						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GCGAACACATGATCATACACG	0.398000													4	54					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869458	50869458	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:50869458G>C	ENST00000398473.2	+	16	2098	c.1986G>C	c.(1984-1986)gaG>gaC	p.E662D	LARP4_ENST00000518444.1_Missense_Mutation_p.E661D|LARP4_ENST00000293618.8_Missense_Mutation_p.E591D|LARP4_ENST00000347328.5_Missense_Mutation_p.E591D|LARP4_ENST00000429001.3_Missense_Mutation_p.E668D	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	662							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTCCGTTGAGAAACCACATG	0.493000													10	98					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140084142	140084142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:140084142G>A	ENST00000274712.3	+	5	569	c.442G>A	c.(442-444)Gag>Aag	p.E148K		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	148						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGATGAAGGAGCTCAGAGA	0.463000													3	30					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290957	119290957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:119290957C>G	ENST00000284240.5	-	3	1216	c.177G>C	c.(175-177)aaG>aaC	p.K59N	USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000580275.1_Missense_Mutation_p.K42N|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.K59N|USP2-AS1_ENST00000500970.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	59	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	p.K59N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GCACGTGCTTCTTTGTCTCAC	0.557000													7	113					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4941878	4941878	+	RNA	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:4941878C>T	ENST00000592666.1	+	0	1584							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GCGATGAGTGCGACATGGCCT	0.672000													3	11					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507976	14507976	+	Missense_Mutation	SNP	G	G	A	rs141404743	byFrequency	TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:14507976G>A	ENST00000242786.5	+	6	646	c.566G>A	c.(565-567)cGc>cAc	p.R189H	CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCCGCTGCCGCCCGGGCTGG	0.587000													6	87					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563529	55563529	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr11:55563529C>T	ENST00000335605.1	+	1	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTTATGCTCTCCGGTTAAACT	0.493000													15	109					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80014972	80014972	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr12:80014972C>T	ENST00000328827.4	-	3	904	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	178	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCATCATCTTCGTACTCATCT	0.333000													12	122					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978921	247978921	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr1:247978921C>T	ENST00000357627.1	-	1	110	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CATTCCCCATCAGGGCACACA	0.388000													3	35					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149063	142149063	+	RNA	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:142149063C>T	ENST00000390372.3	-	0	214																											TCTTCTTTCTCATAATACTGA	0.502000													11	63					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122659635	122659635	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr10:122659635G>C	ENST00000263461.6	+	20	2856	c.2610G>C	c.(2608-2610)ttG>ttC	p.L870F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	870						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGTATTCTTTGGACATTTCTC	0.443000													4	64					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16506747	16506747	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr20:16506747G>A	ENST00000354981.2	-	3	378	c.221C>T	c.(220-222)tCa>tTa	p.S74L	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.S74L|KIF16B_ENST00000355755.3_Missense_Mutation_p.S74L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	74	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATTTCTTGTGAAACGTAATC	0.348000													16	78					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35988620	35988620	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr5:35988620G>C	ENST00000274278.3	-	2	485	c.128C>G	c.(127-129)tCt>tGt	p.S43C	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S43C|UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	43						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAATCTGAGACACCCGGTC	0.358000													7	40					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43282052	43282052	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr21:43282052C>G	ENST00000269844.3	-	6	794	c.684G>C	c.(682-684)gaG>gaC	p.E228D	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAAAGGTATCTCGTGCGGCT	0.502000													6	25					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31474083	31474083	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:31474083G>A	ENST00000252229.6	+	3	568	c.489G>A	c.(487-489)atG>atA	p.M163I	MICB_ENST00000538442.1_Missense_Mutation_p.M131I|MICB_ENST00000399150.3_Missense_Mutation_p.M120I	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	163					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CCTTGGCTATGAACGTCACAA	0.507000													4	59					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625487	19625487	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:19625487G>C	ENST00000360913.3	-	1	1351	c.750C>G	c.(748-750)ttC>ttG	p.F250L	TSSK6_ENST00000585580.3_Missense_Mutation_p.F250L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	250	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CGGACGGGCTGAACTGCAGCA	0.716000													5	48					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919936	142919936	+	Silent	SNP	C	C	T			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr7:142919936C>T	ENST00000408947.3	+	1	807	c.765C>T	c.(763-765)ctC>ctT	p.L255L		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	255					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTCTCATCCTCTACATTTTCA	0.478000													9	88					0	0	1	0	0
GNMT	27232	broad.mit.edu	37	6	42928538	42928538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr6:42928538delG	ENST00000372808.3	+	1	43	c.33delG	c.(31-33)ctgfs	p.L11fs		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	11					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	CCCGCTCCCTGGGGGTGGCGG	0.711													2	4	---	---	---	---					
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F									p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611													6	3	---	---	---	---					
DISP2	85455	broad.mit.edu	37	15	40659713	40659713	+	Frame_Shift_Del	DEL	C	C	-	rs35004278	byFrequency	TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr15:40659713delC	ENST00000267889.3	+	8	1487	c.1400delC	c.(1399-1401)accfs	p.T467fs		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	467					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GACAACTACACCTCTGTCACT	0.612													7	114	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81241349	81241353	+	RNA	DEL	TTTTT	TTTTT	-	rs72082520		TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr16:81241349_81241353delTTTTT	ENST00000337114.4	-	0	760				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						TATGTGGGTCttttttttttttttt	0.410													4	8	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50475627	50475628	+	RNA	INS	-	-	G			TCGA-DK-AA74-01A-11D-A391-08	TCGA-DK-AA74-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50181e-8463-4577-bd06-0a3a124ccb1d	28c96677-b701-4ffe-9898-127af17e9bb7	g.chr19:50475627_50475628insG	ENST00000602139.1	+	0	1304									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TGATCCTCCAAGGGGGGGCTTG	0.634													2	4	---	---	---	---