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
VAX2	25806	broad.mit.edu	37	2	71160317	71160317	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:71160317A>T	ENST00000234392.2	+	3	888	c.856A>T	c.(856-858)Aag>Tag	p.K286*		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	286					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CAGCAGCTGCAAGAAAGCTAA	0.627000													8	21					0	0	0.004482	0	0
HCN1	348980	broad.mit.edu	37	5	45303826	45303826	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:45303826G>T	ENST00000303230.4	-	6	1550	c.1493C>A	c.(1492-1494)cCt>cAt	p.P498H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	498						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATAATCTCCAGGTTGAAACAC	0.403000													51	93					4.88482e-21	7.04542e-21	0.003610	1	0
NOTCH4	4855	broad.mit.edu	37	6	32165125	32165125	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:32165125C>T	ENST00000375023.3	-	27	5141	c.5003G>A	c.(5002-5004)cGc>cAc	p.R1668H	NOTCH4_ENST00000443903.2_Missense_Mutation_p.R77H	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1668					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAGGGGTGTGCGCCCTGCCCG	0.652000													8	60					0	0	0.006214	0	0
NFATC1	4772	broad.mit.edu	37	18	77227581	77227581	+	Splice_Site	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:77227581C>T	ENST00000253506.5	+	8	2460	c.2092_splice	c.e8+1	p.N697_splice	NFATC1_ENST00000427363.2_Splice_Site_p.N697_splice|NFATC1_ENST00000542384.1_Splice_Site_p.N697_splice|NFATC1_ENST00000586434.1_Splice_Site_p.N684_splice|NFATC1_ENST00000591814.1_Silent_p.N697N|NFATC1_ENST00000329101.4_Splice_Site_p.N684_splice|NFATC1_ENST00000397790.2_Splice_Site_p.N225_splice|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000592223.1_Silent_p.N684N|NFATC1_ENST00000545796.1_Splice_Site_p.N225_splice|NFATC1_ENST00000318065.5_Splice_Site_p.N684_splice	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	697					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TTCCCGCCAACGGTAACGCCA	0.542000													6	35					0	0	0.003080	0	0
RFPL3	10738	broad.mit.edu	37	22	32754417	32754417	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:32754417T>A	ENST00000249007.4	+	1	564	c.359T>A	c.(358-360)aTg>aAg	p.M120K	RFPL3_ENST00000397468.1_Missense_Mutation_p.M91K|RFPL3_ENST00000382088.3_Missense_Mutation_p.M91K	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	120	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AACCCAAGGATGCGGAAGTTC	0.512000													12	105					0	0	0.001855	0	0
BRIX1	55299	broad.mit.edu	37	5	34925008	34925008	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:34925008C>A	ENST00000336767.5	+	9	1083	c.720C>A	c.(718-720)ctC>ctA	p.L240L	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	240	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCTTAAATCTCATAAAGATTT	0.353000													8	42					0.000274275	0.00029598	0.004482	1	0
IQGAP1	8826	broad.mit.edu	37	15	91019960	91019960	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:91019960G>T	ENST00000268182.5	+	24	2974	c.2850G>T	c.(2848-2850)atG>atT	p.M950I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M378I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	950					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATATGATGATGATAAATAAAC	0.358000													47	107					7.88023e-25	1.14206e-24	0.003610	1	0
NUP210P1	255330	broad.mit.edu	37	3	126386090	126386090	+	RNA	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:126386090C>G	ENST00000357061.3	+	0	542					NR_034158.1																						GATCACCAACCACCAGAACCC	0.582000													4	24					0	0	0.000602	0	0
HTR3B	9177	broad.mit.edu	37	11	113802135	113802135	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:113802135T>G	ENST00000260191.2	+	3	500	c.243T>G	c.(241-243)agT>agG	p.S81R	HTR3B_ENST00000537778.1_Missense_Mutation_p.S70R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	81					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TAAAGACAAGTGTATGGTACC	0.318000													5	33					0	0	0.003080	0	0
SPACA3	124912	broad.mit.edu	37	17	31322657	31322657	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:31322657C>T	ENST00000580599.1	+	3	467	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000269053.3_Missense_Mutation_p.L89F			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	89					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TGAGGCCAAGCTCTACGGTCG	0.617000													9	45					0	0	0.004482	0	0
INO80D	54891	broad.mit.edu	37	2	206872020	206872020	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:206872020C>T	ENST00000403263.1	-	10	2310	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	636					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAAAAAAATCAAAATCTTGT	0.343000													8	44					0	0	0.003080	0	0
OR51V1	283111	broad.mit.edu	37	11	5221714	5221714	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:5221714A>G	ENST00000321255.1	-	1	216	c.217T>C	c.(217-219)Tcc>Ccc	p.S73P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAGCATGGACAGGAAGTAA	0.527000													8	45					0	0	0.004482	0	0
NCOA2	10499	broad.mit.edu	37	8	71036930	71036930	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:71036930C>T	ENST00000452400.2	-	20	4268	c.4087G>A	c.(4087-4089)Gga>Aga	p.G1363R	NCOA2_ENST00000267974.4_Missense_Mutation_p.G451R	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1363					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TACCTGTTTCCGCCCATGTTC	0.547000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								3	36					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100682186	100682186	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:100682186C>G	ENST00000306151.4	+	3	7553	c.7489C>G	c.(7489-7491)Cct>Gct	p.P2497A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2497	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.517000													64	351					0	0	0.003610	0	0
OR10C1	442194	broad.mit.edu	37	6	29408444	29408444	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:29408444G>A	ENST00000444197.2	+	1	1362	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCTCCTACGGGCGTATCCT	0.582000													37	158					0	0	0.004289	0	0
CGN	57530	broad.mit.edu	37	1	151502465	151502465	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:151502465G>T	ENST00000271636.7	+	12	2320	c.2187G>T	c.(2185-2187)caG>caT	p.Q729H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	723	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGACCCAGGAGGAAAATG	0.642000													27	74					3.6726e-16	5.14851e-16	0.003954	1	0
CSMD3	114788	broad.mit.edu	37	8	113316984	113316984	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:113316984A>G	ENST00000297405.5	-	52	8476	c.8232T>C	c.(8230-8232)acT>acC	p.T2744T	CSMD3_ENST00000343508.3_Silent_p.T2704T|CSMD3_ENST00000352409.3_Silent_p.T2674T|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2744	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACTCCAAGTACCATTAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	75					0	0	0.002450	0	0
ZNF236	7776	broad.mit.edu	37	18	74649240	74649240	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:74649240G>C	ENST00000253159.8	+	26	4915	c.4717G>C	c.(4717-4719)Gat>Cat	p.D1573H	ZNF236_ENST00000320610.9_Missense_Mutation_p.D1575H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1573					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACGCTGGCCGATACTCAGGG	0.557000													9	12					0	0	0.004482	0	0
HHAT	55733	broad.mit.edu	37	1	210637922	210637922	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:210637922C>G	ENST00000367010.1	+	8	1157	c.930C>G	c.(928-930)ctC>ctG	p.L310L	HHAT_ENST00000308852.6_Silent_p.L265L|HHAT_ENST00000537898.1_Silent_p.L245L|HHAT_ENST00000541565.1_Silent_p.L173L|HHAT_ENST00000391905.3_Silent_p.L310L|HHAT_ENST00000545781.1_Silent_p.L247L|HHAT_ENST00000545154.1_Silent_p.L311L|HHAT_ENST00000261458.3_Silent_p.L310L|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000413764.2_Silent_p.L310L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	310					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGCTCTGCTCATGCGCCTGG	0.577000													17	100					0	0	0.004990	0	0
NTSR2	23620	broad.mit.edu	37	2	11802178	11802178	+	Silent	SNP	G	G	T	rs138433349	by1000genomes	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:11802178G>T	ENST00000306928.5	-	2	847	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	271					sensory perception	integral to plasma membrane		p.T271T(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCTGGATAAAGGTCTTCTTCC	0.607000													15	133					7.93312e-07	9.36983e-07	0.002450	1	0
CMYA5	202333	broad.mit.edu	37	5	79028079	79028079	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:79028079C>G	ENST00000446378.2	+	2	3522	c.3491C>G	c.(3490-3492)aCc>aGc	p.T1164S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1164						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGGAAGAAACCAAACCTGCA	0.443000													4	26					0	0	0.009096	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874369	36874369	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:36874369C>T	ENST00000279024.4	-	2	434	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	55										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)				AGGCGCTTGGCAGGGATCAGG	0.587000													5	32					0	0	0.001168	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668263	176668263	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:176668263A>T	ENST00000367662.3	+	8	3938	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	925					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						CAGCCCTGCGAGCCAAGCTTA	0.547000													25	100					0	0	0.004656	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503752	140503752	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:140503752C>T	ENST00000194152.1	+	1	2172	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		724					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGTCGCTGCTCGGTGCCCG	0.667000													38	165					0	0	0.005524	0	0
CELSR2	1952	broad.mit.edu	37	1	109812092	109812092	+	Missense_Mutation	SNP	G	G	T	rs141489111	byFrequency	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:109812092G>T	ENST00000271332.3	+	21	6920	c.6859G>T	c.(6859-6861)Gtc>Ttc	p.V2287F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2287					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)		GAGCATCAGCGTCCATGATGA	0.612000													8	44					0.00307968	0.0031969	0.003080	1	0
C3AR1	719	broad.mit.edu	37	12	8212518	8212518	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:8212518C>G	ENST00000307637.4	-	2	467	c.264G>C	c.(262-264)tgG>tgC	p.W88C		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	88					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGCCGTAGGGCCACTGTCCCT	0.562000													7	39					0	0	0.004482	0	0
ATP10A	57194	broad.mit.edu	37	15	25940215	25940215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:25940215T>A	ENST00000356865.6	-	14	2950	c.2839A>T	c.(2839-2841)Aag>Tag	p.K947*		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	947					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTTTGCCCTTGGTCTTCTCA	0.612000													13	75					0	0	0.001368	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530653	84530653	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:84530653C>A	ENST00000527857.1	+	0	675					NR_026851.1																						ACCCTCACCACTGAGGGACCC	0.537000													37	130					2.38352e-08	2.9186e-08	0.004289	1	0
AMHR2	269	broad.mit.edu	37	12	53819292	53819292	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:53819292A>G	ENST00000257863.4	+	5	636	c.556A>G	c.(556-558)Agg>Ggg	p.R186G	AMHR2_ENST00000379791.3_Missense_Mutation_p.R186G|AMHR2_ENST00000550311.1_Missense_Mutation_p.R186G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	186					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCAGAGCCAAGGCCAGACTC	0.607000													10	52					0	0	0.006214	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562286	52562286	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:52562286C>T	ENST00000307076.4	-	6	973	c.573G>A	c.(571-573)ccG>ccA	p.P191P	NT5DC2_ENST00000459839.1_Silent_p.P203P|NT5DC2_ENST00000422318.2_Silent_p.P228P|NT5DC2_ENST00000307092.4_Silent_p.P132P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	191							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGCCATCTCCGGTAGCGAGA	0.572000													11	50					0	0	0.008291	0	0
ADAM28	10863	broad.mit.edu	37	8	24199159	24199159	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:24199159G>C	ENST00000265769.4	+	16	1829	c.1719G>C	c.(1717-1719)ttG>ttC	p.L573F	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L320F|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	573	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CGGATAATTTGCCCTGGAAAG	0.413000													23	111					0	0	0.003330	0	0
ABCA10	10349	broad.mit.edu	37	17	67190529	67190529	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:67190529C>T	ENST00000269081.4	-	13	2251	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	ABCA10_ENST00000416101.2_Missense_Mutation_p.E448K	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	448	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCTCACCTTCTGTAGAAACA	0.328000													6	73					0	0	0.001168	0	0
IMPG2	50939	broad.mit.edu	37	3	100995528	100995528	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:100995528C>A	ENST00000193391.7	-	5	750	c.563G>T	c.(562-564)gGt>gTt	p.G188V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	188					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAAGTATCACCAACAGGAAC	0.323000													8	32					3.09899e-07	3.68927e-07	0.004482	1	0
DNAJC30	84277	broad.mit.edu	37	7	73097481	73097481	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:73097481G>C	ENST00000395176.2	-	1	302	c.273C>G	c.(271-273)ttC>ttG	p.F91L	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	91	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						AGATGCGCGTGAAGCGCTCGG	0.672000													8	48					0	0	0.003080	0	0
SSPO	23145	broad.mit.edu	37	7	149510833	149510833	+	RNA	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:149510833G>T	ENST00000378016.2	+	0	10118							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCTGACCGGGCAGCGGCAC	0.687000													6	17					0.000157383	0.000173585	0.003080	1	0
SEMA4A	64218	broad.mit.edu	37	1	156131274	156131274	+	Silent	SNP	A	A	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:156131274A>C	ENST00000368285.3	+	9	1215	c.948A>C	c.(946-948)acA>acC	p.T316T	SEMA4A_ENST00000368286.2_Silent_p.T184T|SEMA4A_ENST00000368282.1_Silent_p.T316T|SEMA4A_ENST00000368284.1_Silent_p.T184T|SEMA4A_ENST00000355014.2_Silent_p.T316T|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	316	Sema.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1).	axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATTCTCCCACAGCTCCCCACA	0.672000													16	48					0	0	0.004990	0	0
ZNF841	284371	broad.mit.edu	37	19	52569554	52569554	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:52569554T>A	ENST00000389534.4	-	7	2040	c.1581A>T	c.(1579-1581)ttA>ttT	p.L527F	ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.L411F|ZNF841_ENST00000594295.1_Missense_Mutation_p.L527F|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTACAGTTAGTAATGAGCCCC	0.393000													9	16					0	0	0.004482	0	0
C7orf31	136895	broad.mit.edu	37	7	25208070	25208070	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:25208070C>A	ENST00000409280.1	-	3	457	c.149G>T	c.(148-150)aGg>aTg	p.R50M	C7orf31_ENST00000283905.3_Missense_Mutation_p.R50M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	50										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AAGTGACTCCCTTAATTCCTG	0.433000													14	69					1.99824e-07	2.39788e-07	0.004990	1	0
MIR31HG	554202	broad.mit.edu	37	9	21512108	21512108	+	RNA	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:21512108C>T	ENST00000304425.3	-	0	181					NR_027054.1																						TGGCTGCTGTCAGACAGGAAA	0.502000													21	69					0	0	0.003954	0	0
DLAT	1737	broad.mit.edu	37	11	111908007	111908007	+	Silent	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:111908007A>T	ENST00000280346.6	+	6	1457	c.798A>T	c.(796-798)gtA>gtT	p.V266V	DLAT_ENST00000537636.1_Silent_p.V37V|DLAT_ENST00000393051.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	266	Lipoyl-binding 2.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GTTTTGAAGTACAGGAAGAAG	0.388000													9	38					0	0	0.006214	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696235	10696235	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:10696235G>T	ENST00000302079.6	-	43	6687	c.6688C>A	c.(6688-6690)Ccg>Acg	p.P2230T	PIEZO2_ENST00000538948.1_Missense_Mutation_p.P187T|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P85T|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2255T|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2230T			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2230						integral to membrane	ion channel activity										AACGGCCCCGGGACCTGGTCC	0.527000													6	40					0.00116845	0.00122564	0.001168	1	0
ZNF804B	219578	broad.mit.edu	37	7	88389326	88389326	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:88389326C>G	ENST00000333190.4	+	1	645	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	12						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGAGACATCTCAGCAATGGGC	0.592000										HNSCC(36;0.09)			11	72					0	0	0.008291	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891148	45891148	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:45891148C>T	ENST00000007414.3	-	15	1595	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	OSBPL7_ENST00000392507.3_Silent_p.P468P	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	468					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTGGCCGCCGGCAGGCAGC	0.667000													9	32					0	0	0.008291	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638476	56638476	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:56638476C>A	ENST00000267116.7	-	24	2803	c.2682G>T	c.(2680-2682)gcG>gcT	p.A894A	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	894							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCGTCATGAGCGCAGTGCGGC	0.642000													6	54					3.59834e-05	4.02799e-05	0.001168	1	0
KIAA0368	23392	broad.mit.edu	37	9	114128858	114128858	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:114128858G>C	ENST00000259335.4	-	48	5696	c.5697C>G	c.(5695-5697)ctC>ctG	p.L1899L	KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000338205.5_Silent_p.L1721L	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCCACGTGCTGAGTTTTAGCC	0.448000													6	24					0	0	0.001984	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									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)		ccagcctccaactcccccttc	0.627000													5	23					0	0	0.001984	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	72					0	0	0.009096	0	0
HGF	3082	broad.mit.edu	37	7	81335605	81335605	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:81335605G>C	ENST00000222390.5	-	15	1981	c.1755C>G	c.(1753-1755)gcC>gcG	p.A585A	HGF_ENST00000457544.2_Silent_p.A580A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	585	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAACTAACCTGGCAAGCTTCA	0.418000													11	48					0	0	0.001368	0	0
SGCG	6445	broad.mit.edu	37	13	23808796	23808796	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr13:23808796A>C	ENST00000218867.3	+	3	366	c.242A>C	c.(241-243)gAa>gCa	p.E81A	SGCG_ENST00000545013.1_Missense_Mutation_p.E81A|SGCG_ENST00000537476.1_Missense_Mutation_p.E81A	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	81					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTGCGCTTGGAAGGGGAATCA	0.333000													15	82					0	0	0.006122	0	0
DAO	1610	broad.mit.edu	37	12	109283310	109283310	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:109283310C>A	ENST00000228476.3	+	4	579	c.375C>A	c.(373-375)ttC>ttA	p.F125L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	125					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TGGATATGTTCCCAGATTACG	0.557000													7	55					1.76689e-08	2.19036e-08	0.006214	1	0
ANKH	56172	broad.mit.edu	37	5	14741987	14741987	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:14741987C>T	ENST00000284268.6	-	8	1290	c.960G>A	c.(958-960)acG>acA	p.T320T	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.T122T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	320					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTGGGCTGCCGTGACTGTGT	0.512000													6	55					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237753196	237753196	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:237753196G>A	ENST00000366574.2	+	30	4019	c.3702G>A	c.(3700-3702)gaG>gaA	p.E1234E	RYR2_ENST00000360064.6_Silent_p.E1232E|RYR2_ENST00000542537.1_Silent_p.E1218E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1234	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)			GCTTACAAGAGGGCTATGAAC	0.438000													6	46					0	0	0.001168	0	0
FOXM1	2305	broad.mit.edu	37	12	2968621	2968621	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:2968621G>A	ENST00000342628.2	-	10	1702	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	FOXM1_ENST00000361953.3_Missense_Mutation_p.P477L|FOXM1_ENST00000359843.3_Missense_Mutation_p.P492L|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	492					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAAAGATGGGGCCGGGGA	0.567000													12	86					0	0	0.010729	0	0
FAM47B	170062	broad.mit.edu	37	X	34962538	34962538	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:34962538G>T	ENST00000329357.5	+	1	1626	c.1590G>T	c.(1588-1590)agG>agT	p.R530S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	530										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTGGGACAGGAGACGCCGGG	0.498000													20	59					1.01871e-10	1.33456e-10	0.008871	1	0
UBE2O	63893	broad.mit.edu	37	17	74398767	74398767	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:74398767C>A	ENST00000319380.7	-	4	666	c.602G>T	c.(601-603)gGg>gTg	p.G201V		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	201							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AATGTAGTCCCCATACATGAA	0.552000													7	105					0.00307968	0.0031969	0.003080	1	0
NTRK3	4916	broad.mit.edu	37	15	88679220	88679220	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:88679220C>G	ENST00000394480.1	-	9	1138	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L	NTRK3_ENST00000355254.2_Missense_Mutation_p.V273L|NTRK3_ENST00000540489.2_Missense_Mutation_p.V273L|NTRK3_ENST00000357724.2_Missense_Mutation_p.V273L|NTRK3_ENST00000360948.2_Missense_Mutation_p.V273L|NTRK3_ENST00000558676.1_Missense_Mutation_p.V273L|NTRK3_ENST00000317501.3_Missense_Mutation_p.V273L|NTRK3_ENST00000557856.1_Missense_Mutation_p.V273L|NTRK3_ENST00000542733.2_Missense_Mutation_p.V175L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	273	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCACTCGTCACATTCACCAGC	0.468000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			8	94					0	0	0.003080	0	0
PATL1	219988	broad.mit.edu	37	11	59421465	59421465	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:59421465T>C	ENST00000300146.9	-	9	1196	c.1112A>G	c.(1111-1113)cAg>cGg	p.Q371R		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	371	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CCTTCTATTCTGTTGCTGTCT	0.393000													12	74					0	0	0.010729	0	0
RSPO1	284654	broad.mit.edu	37	1	38078474	38078474	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:38078474G>T	ENST00000356545.2	-	8	1532	c.745C>A	c.(745-747)Cag>Aag	p.Q249K	RSPO1_ENST00000401068.1_Missense_Mutation_p.Q249K|RSPO1_ENST00000401069.1_Missense_Mutation_p.Q249K|RSPO1_ENST00000401070.1_Missense_Mutation_p.Q186K|RSPO1_ENST00000401071.2_Missense_Mutation_p.Q186K|RSPO1_ENST00000373059.1_Missense_Mutation_p.Q222K	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	249					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTGCTGCTGCTGCTGTTGC	0.637000													22	102					1.96895e-08	2.42084e-08	0.002780	1	0
SNX2	6643	broad.mit.edu	37	5	122130962	122130962	+	Splice_Site	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:122130962C>G	ENST00000379516.2	+	2	218	c.108_splice	c.e2-1	p.S37_splice	SNX2_ENST00000514949.1_5'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	37					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTTTAACAGTCAAGTCCATCA	0.373000													11	63					0	0	0.010729	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													7	33					0	0	0.001984	0	0
UTRN	7402	broad.mit.edu	37	6	145021366	145021366	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:145021366A>G	ENST00000367545.3	+	52	7796	c.7796A>G	c.(7795-7797)tAt>tGt	p.Y2599C	UTRN_ENST00000367526.4_Missense_Mutation_p.Y154C	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2599					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGCTCCAGTATGACCATTGT	0.353000													8	56					0	0	0.006214	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326352	112326352	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:112326352G>A	ENST00000550735.2	+	11	1786	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.D344N	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	344					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						GAGAATCCAGGATCTGAAAGT	0.478000													16	80					0	0	0.004990	0	0
FEZF1	389549	broad.mit.edu	37	7	121942156	121942156	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:121942156C>T	ENST00000442488.2	-	4	1390	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	FEZF1_ENST00000331178.4_Silent_p.P437P|FEZF1_ENST00000427185.2_Silent_p.P391P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	441	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						gcgggggcggcggTTCAGTGC	0.706000													6	45					0	0	0.001168	0	0
ALPK1	80216	broad.mit.edu	37	4	113356346	113356346	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:113356346C>T	ENST00000458497.1	+	12	3356	c.3077C>T	c.(3076-3078)aCg>aTg	p.T1026M	ALPK1_ENST00000504176.2_Missense_Mutation_p.T948M|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1026M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1026	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAACTGTGGACGGCCCAGGAA	0.343000													28	171					0	0	0.009535	0	0
C12orf76	400073	broad.mit.edu	37	12	110488903	110488903	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:110488903C>T	ENST00000548191.1	-	2	465	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	C12orf76_ENST00000309050.5_Intron|C12orf76_ENST00000548936.1_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						GTCCTTTTCACCTTGCTGTGC	0.473000													6	39					0	0	0.001168	0	0
ZIC4	84107	broad.mit.edu	37	3	147108850	147108850	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:147108850G>A	ENST00000383075.3	-	4	1384	c.872C>T	c.(871-873)tCg>tTg	p.S291L	ZIC4_ENST00000484399.1_Missense_Mutation_p.S291L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.S341L|ZIC4_ENST00000473123.1_Missense_Mutation_p.S291L|ZIC4_ENST00000491672.1_Missense_Mutation_p.S85L|ZIC4_ENST00000425731.3_Missense_Mutation_p.S329L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	291						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGCGGCGGCGAGCGCCCGTG	0.672000													13	47					0	0	0.003163	0	0
ZNF90	7643	broad.mit.edu	37	19	20228856	20228856	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:20228856A>G	ENST00000418063.2	+	4	605	c.493A>G	c.(493-495)Ata>Gta	p.I165V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	165						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CAGACATAAGATAAGAGATAC	0.343000													3	11					0	0	0.004672	0	0
CLCA1	1179	broad.mit.edu	37	1	86947985	86947985	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:86947985T>A	ENST00000234701.3	+	6	1006	c.655T>A	c.(655-657)Tat>Aat	p.Y219N	CLCA1_ENST00000394711.1_Missense_Mutation_p.Y219N			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	219					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AACAGGACTCTATGAAAAAGG	0.413000													18	57					0	0	0.004990	0	0
CHRD	8646	broad.mit.edu	37	3	184106522	184106522	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:184106522G>T	ENST00000204604.1	+	21	2948	c.2702G>T	c.(2701-2703)aGa>aTa	p.R901I	CHRD_ENST00000545352.1_Missense_Mutation_p.R443I|CHRD_ENST00000348986.3_Missense_Mutation_p.R861I|CHRD_ENST00000450923.1_Missense_Mutation_p.R901I|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	901	VWFC 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCACCTGCAGATGTGGGGTA	0.612000													17	71					5.3912e-06	6.12637e-06	0.006122	1	0
TMEM202	338949	broad.mit.edu	37	15	72691226	72691226	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:72691226G>T	ENST00000341689.3	+	2	368	c.314G>T	c.(313-315)tGg>tTg	p.W105L	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	105						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGCTGTGCTGGAGCCACACA	0.532000													7	107					0.000274275	0.00029598	0.004482	1	0
OR52N1	79473	broad.mit.edu	37	11	5809516	5809516	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:5809516G>T	ENST00000317078.1	-	1	530	c.531C>A	c.(529-531)ccC>ccA	p.P177P	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P177P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGTAGGTGTGGGGTATGACGT	0.498000													9	30					5.4927e-09	6.98225e-09	0.004482	1	0
SYNE1	23345	broad.mit.edu	37	6	152765682	152765682	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:152765682C>G	ENST00000367255.5	-	30	4302	c.3701G>C	c.(3700-3702)tGt>tCt	p.C1234S	SYNE1_ENST00000367248.3_Missense_Mutation_p.C1224S|SYNE1_ENST00000413186.2_Missense_Mutation_p.C1234S|SYNE1_ENST00000367253.4_Missense_Mutation_p.C1234S|SYNE1_ENST00000423061.1_Missense_Mutation_p.C1241S|SYNE1_ENST00000448038.1_Missense_Mutation_p.C1241S|SYNE1_ENST00000265368.4_Missense_Mutation_p.C1234S|SYNE1_ENST00000341594.5_Missense_Mutation_p.C1300S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1234					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTACTGGACACAGTCCCCAAA	0.313000										HNSCC(10;0.0054)			6	39					0	0	0.001168	0	0
ITGAL	3683	broad.mit.edu	37	16	30500676	30500676	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr16:30500676A>G	ENST00000356798.6	+	11	1362	c.1182A>G	c.(1180-1182)ccA>ccG	p.P394P	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P311P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	394					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)	GGAATGAACCATTGACACCAG	0.537000													14	59					0	0	0.003163	0	0
DIP2B	57609	broad.mit.edu	37	12	51121554	51121554	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:51121554G>C	ENST00000301180.5	+	29	3503	c.3469G>C	c.(3469-3471)Gat>Cat	p.D1157H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1157						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCATATCTTGATTTTAGTGT	0.443000													29	134					0	0	0.006320	0	0
ADARB1	104	broad.mit.edu	37	21	46624477	46624477	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr21:46624477G>T	ENST00000539173.1	+	10	2128	c.1693G>T	c.(1693-1695)Gtg>Ttg	p.V565L	ADARB1_ENST00000389863.4_Missense_Mutation_p.V565L|ADARB1_ENST00000360697.3_Missense_Mutation_p.V565L|ADARB1_ENST00000348831.4_Missense_Mutation_p.V525L|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	565	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.V565M(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGCTGGAACGTGGTGGGCAT	0.592000													7	58					2.0095e-06	2.33663e-06	0.001984	1	0
OR2M5	127059	broad.mit.edu	37	1	248309331	248309331	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:248309331C>A	ENST00000366476.1	+	1	882	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCTCCGCAACAAGGAGGTGA	0.488000													70	58					6.98806e-16	9.75078e-16	0.003610	1	0
ATP1A4	480	broad.mit.edu	37	1	160141528	160141528	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:160141528G>T	ENST00000368081.4	+	12	2306	c.1835G>T	c.(1834-1836)tGt>tTt	p.C612F	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	612					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGAGCAAGTGTCGCAGTGCA	0.498000													42	112					2.45108e-15	3.38859e-15	0.008740	1	0
PKN1	5585	broad.mit.edu	37	19	14581019	14581019	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:14581019G>A	ENST00000242783.6	+	19	2503	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	PKN1_ENST00000342216.4_Missense_Mutation_p.E786K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	780	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGACCCCGGAGTTCCTGGC	0.632000													11	36					0	0	0.001368	0	0
COL12A1	1303	broad.mit.edu	37	6	75892912	75892912	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:75892912G>C	ENST00000322507.8	-	10	2054	c.1745C>G	c.(1744-1746)tCa>tGa	p.S582*	COL12A1_ENST00000416123.2_Nonsense_Mutation_p.S582*|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S582*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	582	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCAATTCTGAGCGAACGGC	0.438000													14	66					0	0	0.001855	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596251	3596251	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:3596251C>A	ENST00000315212.3	-	6	983	c.628G>T	c.(628-630)Gac>Tac	p.D210Y		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	210	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AACATACTGTCTGTATACAGA	0.383000													7	57					0.000274275	0.00029598	0.004482	1	0
IGLV1-40	28825	broad.mit.edu	37	22	22764556	22764556	+	RNA	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:22764556C>T	ENST00000390299.2	+	0	349																											CACTGGGCTCCAGGCTGAGGA	0.587000													23	125					0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126373554	126373554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:126373554G>T	ENST00000394329.3	+	9	11396	c.11383G>T	c.(11383-11385)Gga>Tga	p.G3795*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G2093*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3795					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G3795R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGGCAGAGTGGAGTAAAGGT	0.478000													11	50					2.27111e-07	2.71447e-07	0.001368	1	0
EPB42	2038	broad.mit.edu	37	15	43494131	43494131	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:43494131G>A	ENST00000300215.3	-	12	2371	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V530V|EPB42_ENST00000441366.2_Silent_p.V608V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	608					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCTGGAGGCTGACTGAGGCTG	0.557000													11	84					0	0	0.010729	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20517336	20517336	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:20517336T>A	ENST00000202677.6	-	25	3520	c.3378A>T	c.(3376-3378)gaA>gaT	p.E1126D		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1126					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCTCATTTACTTCTGGCACTG	0.428000													4	25					0	0	0.009096	0	0
CAND2	23066	broad.mit.edu	37	3	12858985	12858985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:12858985C>T	ENST00000456430.2	+	10	2595	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.Q759*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	852					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						TGAGGTGGGTCAGGTGGCTGG	0.662000													5	32					0	0	0.001168	0	0
TGM6	343641	broad.mit.edu	37	20	2384323	2384323	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:2384323C>A	ENST00000202625.2	+	9	1251	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	TGM6_ENST00000381423.1_Missense_Mutation_p.A397D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	397					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGGTCAACGCCGACTACATC	0.617000													12	59					7.03913e-09	8.87285e-09	0.001368	1	0
FAM47B	170062	broad.mit.edu	37	X	34962537	34962537	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:34962537G>C	ENST00000329357.5	+	1	1625	c.1589G>C	c.(1588-1590)aGg>aCg	p.R530T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	530										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TACTGGGACAGGAGACGCCGG	0.493000													19	59					0	0	0.007413	0	0
STRN3	29966	broad.mit.edu	37	14	31382833	31382833	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr14:31382833C>A	ENST00000355683.5	-	8	1234	c.1019G>T	c.(1018-1020)gGc>gTc	p.G340V	STRN3_ENST00000357479.5_Missense_Mutation_p.G424V|STRN3_ENST00000366206.2_Intron	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	337					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAATGACTTGCCTCCTCCAGA	0.378000													23	125					4.72057e-08	5.7568e-08	0.003954	1	0
MUC4	4585	broad.mit.edu	37	3	195517616	195517616	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:195517616C>T	ENST00000463781.3	-	2	1294	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E279K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	284					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGATGTCTCCCCTGGGTTT	0.468000													8	61					0	0	0.003080	0	0
OBSL1	23363	broad.mit.edu	37	2	220418344	220418344	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:220418344C>G	ENST00000404537.1	-	16	4997	c.4941G>C	c.(4939-4941)acG>acC	p.T1647T	OBSL1_ENST00000373876.1_Silent_p.T1555T|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1647	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGCACTCGAACGTAGCTGTGT	0.597000													4	22					0	0	0.000602	0	0
CARD6	84674	broad.mit.edu	37	5	40853995	40853995	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:40853995C>T	ENST00000254691.5	+	3	2760	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	854					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CACTCCTATTCCCTGGATTCA	0.502000													27	310					0	0	0.004656	0	0
EXTL3	2137	broad.mit.edu	37	8	28575146	28575146	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:28575146G>A	ENST00000220562.4	+	3	2472	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.D140N	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	524						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTCCACTGCTGACAGTATTTT	0.557000													12	51					0	0	0.010729	0	0
CD97	976	broad.mit.edu	37	19	14513644	14513644	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:14513644T>A	ENST00000242786.5	+	12	1499	c.1419T>A	c.(1417-1419)gaT>gaA	p.D473E	CD97_ENST00000358600.3_Missense_Mutation_p.D380E|CD97_ENST00000357355.3_Missense_Mutation_p.D424E|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	473					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						AGTCCTCCGATGGGGAGGCGG	0.577000													16	56					0	0	0.012319	0	0
SOGA1	140710	broad.mit.edu	37	20	35467745	35467745	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:35467745G>C	ENST00000237536.4	-	2	1128	c.787C>G	c.(787-789)Cag>Gag	p.Q263E	SOGA1_ENST00000357779.3_Missense_Mutation_p.Q25E|SOGA1_ENST00000279034.5_Missense_Mutation_p.Q25E	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	25										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTGCTGGCCTGGTCCAGCTGC	0.652000													12	43					0	0	0.001368	0	0
MMP7	4316	broad.mit.edu	37	11	102395737	102395737	+	Silent	SNP	C	C	T	rs149122882		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:102395737C>T	ENST00000260227.4	-	4	595	c.543G>A	c.(541-543)gcG>gcA	p.A181A		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	181					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CTGTCCCAGGCGCAAAGGCAT	0.498000													6	43					0	0	0.001168	0	0
BEND4	389206	broad.mit.edu	37	4	42145643	42145643	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:42145643G>C	ENST00000502486.1	-	3	1435	c.856C>G	c.(856-858)Cct>Gct	p.P286A	BEND4_ENST00000504360.1_Missense_Mutation_p.P282A	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	286										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GTATGCACAGGAGAGGTTGAC	0.542000													3	14					0	0	0.004672	0	0
KCND3	3752	broad.mit.edu	37	1	112524925	112524925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:112524925C>A	ENST00000369697.1	-	1	493	c.424G>T	c.(424-426)Gag>Tag	p.E142*	KCND3_ENST00000315987.2_Nonsense_Mutation_p.E142*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.E142*			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	142						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGGCGTTCTCCCTCTTGCGG	0.617000													11	44					0.000673444	0.000713898	0.008291	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	21					0	0	0.000602	0	0
KIFC2	90990	broad.mit.edu	37	8	145698021	145698021	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:145698021C>G	ENST00000301332.2	+	16	2170	c.1793C>G	c.(1792-1794)tCc>tGc	p.S598C	KIFC2_ENST00000301331.5_Intron|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	598	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CAGCGCAGCTCCCGCTCGCAT	0.721000													6	23					0	0	0.001984	0	0
GPC6	10082	broad.mit.edu	37	13	94680120	94680120	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr13:94680120C>G	ENST00000377047.4	+	4	1464	c.849C>G	c.(847-849)gaC>gaG	p.D283E		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	283						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATCAGGCTGACCTCGACACAG	0.507000													11	61					0	0	0.010729	0	0
FAM13A	10144	broad.mit.edu	37	4	89649738	89649738	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:89649738C>A	ENST00000264344.5	-	24	3225	c.3018G>T	c.(3016-3018)ctG>ctT	p.L1006L	FAM13A_ENST00000395002.2_Silent_p.L652L|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000503556.1_Silent_p.L666L|FAM13A_ENST00000513837.1_Silent_p.L652L|FAM13A_ENST00000511976.1_Silent_p.L592L|FAM13A_ENST00000508369.1_Silent_p.L680L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	1006					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCAGGAGCCTCAGTTTCGCCT	0.493000													11	67					3.07112e-06	3.51655e-06	0.010729	1	0
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:73046870G>A	ENST00000261180.4	+	17	2879	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353000													8	41					0	0	0.003080	0	0
BTBD16	118663	broad.mit.edu	37	10	124045739	124045739	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:124045739A>T	ENST00000368994.2	+	5	615	c.364A>T	c.(364-366)Agg>Tgg	p.R122W	BTBD16_ENST00000260723.4_Missense_Mutation_p.R121W			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	121										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACACCCCCTGAGGGAGCTGGA	0.602000													39	89					0	0	0.006999	0	0
UNC13D	201294	broad.mit.edu	37	17	73831963	73831963	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:73831963G>A	ENST00000207549.4	-	18	1948	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	UNC13D_ENST00000412096.2_Silent_p.S523S	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	523	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAAGCCATGGAGAAGAGGT	0.622000									Familial Hemophagocytic Lymphohistiocytosis				17	112					0	0	0.007413	0	0
WDFY3	23001	broad.mit.edu	37	4	85731115	85731115	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:85731115G>A	ENST00000322366.6	-	14	2677	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.S757L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	757						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGTGACACTGATTCTATTGA	0.398000													17	114					0	0	0.004990	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142144041	142144041	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:142144041C>A	ENST00000390373.2	-	0	43																											CCCACCTGCCCACAGGAGAGA	0.607000													9	172					0.000274275	0.00029598	0.004482	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767729	77767729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:77767729G>T	ENST00000521891.2	+	10	9020	c.8572G>T	c.(8572-8574)Gag>Tag	p.E2858*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E2813*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E2813*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E2832*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2813						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)			ACCTACCACGGAGGTCTGCGA	0.473000										HNSCC(33;0.089)			4	40					0.00024832	0.000271883	0.009096	1	0
MAPK4	5596	broad.mit.edu	37	18	48252510	48252510	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:48252510G>C	ENST00000400384.2	+	5	2068	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	MAPK4_ENST00000540640.1_Missense_Mutation_p.Q133H|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	344					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCGCTAACCAGAGCCAGCTGT	0.577000													5	39					0	0	0.000602	0	0
IQGAP1	8826	broad.mit.edu	37	15	91019961	91019961	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:91019961A>T	ENST00000268182.5	+	24	2975	c.2851A>T	c.(2851-2853)Ata>Tta	p.I951L	IQGAP1_ENST00000560738.1_Missense_Mutation_p.I379L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	951					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TATGATGATGATAAATAAACA	0.363000													45	108					0	0	0.010771	0	0
RGS12	6002	broad.mit.edu	37	4	3319634	3319634	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:3319634C>A	ENST00000336727.3	+	2	2641	c.1737C>A	c.(1735-1737)atC>atA	p.I579I	RGS12_ENST00000543385.1_Silent_p.I579I|RGS12_ENST00000344733.5_Silent_p.I579I|RGS12_ENST00000382788.3_Silent_p.I579I	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	579						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAGCAAGATCCCCGCAGACC	0.612000													11	87					0.000673444	0.000713898	0.008291	1	0
SH2D3C	10044	broad.mit.edu	37	9	130536702	130536702	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:130536702G>C	ENST00000314830.8	-	2	195	c.82C>G	c.(82-84)Cgg>Ggg	p.R28G		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	28					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGAAGGACCGAGGGAGGTTG	0.507000													7	21					0	0	0.001984	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435881	7435881	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:7435881G>T	ENST00000319098.4	-	1	819	c.726C>A	c.(724-726)ctC>ctA	p.L242L	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	242	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CCTGCGGGGGGAGAAGCCTCA	0.617000													7	53					2.52707e-12	3.35452e-12	0.006214	1	0
GPR6	2830	broad.mit.edu	37	6	110301371	110301371	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:110301371G>T	ENST00000414000.2	+	3	1340	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V	GPR6_ENST00000275169.3_Silent_p.V352V			P46095	GPR6_HUMAN	G protein-coupled receptor 6	352						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGTCCAAAGTGCCCTTTCGTT	0.587000													17	103					8.34094e-07	9.81287e-07	0.008871	1	0
CFTR	1080	broad.mit.edu	37	7	117251762	117251762	+	Missense_Mutation	SNP	G	G	C	rs150020260		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:117251762G>C	ENST00000003084.6	+	20	3399	c.3267G>C	c.(3265-3267)tgG>tgC	p.W1089C	CFTR_ENST00000454343.1_Missense_Mutation_p.W1028C|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1089	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGCCAACTGGTTCTTGTACC	0.403000									Cystic Fibrosis				4	40					0	0	0.000602	0	0
TNRC18	84629	broad.mit.edu	37	7	5399057	5399057	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:5399057T>C	ENST00000399537.4	-	15	5153	c.4805A>G	c.(4804-4806)cAt>cGt	p.H1602R	TNRC18_ENST00000430969.1_Missense_Mutation_p.H1602R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1602							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGAGGCCTCATGTTCATCCCA	0.537000													27	160					0	0	0.008361	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385580	21385580	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:21385580A>G	ENST00000382932.2	-	2	589	c.522T>C	c.(520-522)gcT>gcC	p.A174A	SLC7A4_ENST00000403586.1_Silent_p.A174A	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	174				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGATGATGCCAGCAGCCAGGA	0.597000													3	30					0	0	0.004672	0	0
DENND4C	55667	broad.mit.edu	37	9	19290748	19290748	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:19290748C>T	ENST00000602925.1	+	5	1091	c.675C>T	c.(673-675)ctC>ctT	p.L225L	DENND4C_ENST00000434457.2_Silent_p.L225L|DENND4C_ENST00000307015.9_Intron|DENND4C_ENST00000380432.2_Intron			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	0	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTTCCACTCTCAGAATCAG	0.338000													3	22					0	0	0.004672	0	0
CCDC170	80129	broad.mit.edu	37	6	151936673	151936673	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:151936673G>T	ENST00000367290.5	+	10	1916	c.1827G>T	c.(1825-1827)atG>atT	p.M609I	CCDC170_ENST00000239374.7_Missense_Mutation_p.M602I			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	602																	AAAAGCTCATGTCTGTCAAGT	0.398000													22	80					1.55795e-14	2.13417e-14	0.012319	1	0
ASB17	127247	broad.mit.edu	37	1	76384645	76384645	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:76384645C>G	ENST00000284142.6	-	3	1019	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	294	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGTTAGATTTCTAAATTCAGA	0.328000													10	57					0	0	0.001368	0	0
SPAG7	9552	broad.mit.edu	37	17	4862940	4862940	+	Splice_Site	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:4862940T>A	ENST00000573366.1	-	7	1280		c.e7-2		SPAG7_ENST00000206020.3_Splice_Site|SPAG7_ENST00000575142.1_3'UTR			O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCACGGGCACTAGGGGCAGAG	0.617000													10	78					0	0	0.008291	0	0
KMT2C	58508	broad.mit.edu	37	7	151962215	151962215	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:151962215C>A	ENST00000355193.2	-	8	1310	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q364H					lysine (K)-specific methyltransferase 2C																		CATGATAGTGCTGACCACAAG	0.448000													29	391					1.45844e-13	1.96202e-13	0.002836	1	0
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627000													8	48					0	0	0.003080	0	0
FSIP2	401024	broad.mit.edu	37	2	186671328	186671328	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:186671328C>T	ENST00000343098.5	+	17	17562	c.17562C>T	c.(17560-17562)ccC>ccT	p.P5854P	FSIP2_ENST00000424728.1_Silent_p.P5765P	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGTGAACCCAGTAAACCAG	0.343000													10	38					0	0	0.008291	0	0
OR8A1	390275	broad.mit.edu	37	11	124440819	124440819	+	Silent	SNP	C	C	A	rs142548119		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:124440819C>A	ENST00000284287.3	+	1	927	c.855C>A	c.(853-855)acC>acA	p.T285T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTCCTTGACCCAGGAGAATG	0.502000													10	62					0.00136819	0.00143017	0.001368	1	0
KRT79	338785	broad.mit.edu	37	12	53218032	53218032	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:53218032G>T	ENST00000330553.5	-	5	1004	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	324	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGGCAATCAGCTCATACTGG	0.602000													18	87					1.78486e-19	2.56201e-19	0.007413	1	0
UNCX	340260	broad.mit.edu	37	7	1275635	1275635	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:1275635G>A	ENST00000316333.8	+	3	729	c.618G>A	c.(616-618)aaG>aaA	p.K206K		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	206					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGAAGCGCAAGCACGAGAAGA	0.687000													4	14					0	0	0.009096	0	0
WWOX	51741	broad.mit.edu	37	16	78466626	78466626	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr16:78466626G>T	ENST00000566780.1	+	8	1399	c.1033G>T	c.(1033-1035)Gcg>Tcg	p.A345S	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345S	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GTTTACCTTGGCGAGGCCTTT	0.532000													21	140					1.96895e-08	2.42084e-08	0.002780	1	0
XKR3	150165	broad.mit.edu	37	22	17280847	17280847	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:17280847G>C	ENST00000331428.5	-	3	505	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	135						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATGCTAACTTGAGTCTCTTCC	0.383000													11	92					0	0	0.008291	0	0
SRPK3	26576	broad.mit.edu	37	X	153049584	153049584	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:153049584G>T	ENST00000489426.1	+	16	3630	c.1264G>T	c.(1264-1266)Ggc>Tgc	p.G422C	SRPK3_ENST00000370108.3_Missense_Mutation_p.G322C|SRPK3_ENST00000370100.1_Missense_Mutation_p.G280C|SRPK3_ENST00000393786.3_Missense_Mutation_p.G321C|SRPK3_ENST00000370104.1_Missense_Mutation_p.G354C|SRPK3_ENST00000370101.3_Missense_Mutation_p.G355C			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	355	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCTCCGGCTCCCTCTT	0.697000													4	15					0.00909568	0.00934488	0.009096	1	0
LCP2	3937	broad.mit.edu	37	5	169702356	169702356	+	Splice_Site	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:169702356C>A	ENST00000046794.5	-	5	870		c.e5-1			NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)						immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GACTTGGGGTCTGCAAAGGTA	0.507000													11	41					9.31168e-06	1.05019e-05	0.001855	1	0
PIP4K2A	5305	broad.mit.edu	37	10	22830773	22830773	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:22830773G>A	ENST00000376573.4	-	8	1224	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PIP4K2A_ENST00000323883.7_Silent_p.F192F|PIP4K2A_ENST00000545335.1_Silent_p.F273F	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	332	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGTTCGGATCGAACTCCCCGG	0.542000													13	72					0	0	0.001855	0	0
TMC4	147798	broad.mit.edu	37	19	54664630	54664630	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:54664630A>C	ENST00000376591.4	-	13	2107	c.1976T>G	c.(1975-1977)cTt>cGt	p.L659R	TMC4_ENST00000301187.4_Missense_Mutation_p.L653R|TMC4_ENST00000416963.1_Missense_Mutation_p.L241R	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	659						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATCAGCAGAAGGGGCACAGC	0.587000													6	29					0	0	0.001168	0	0
DET1	55070	broad.mit.edu	37	15	89056235	89056235	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:89056235T>C	ENST00000564406.1	-	6	1793	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	DET1_ENST00000444300.1_Missense_Mutation_p.R545G|DET1_ENST00000268148.8_Missense_Mutation_p.R534G	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	534						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCATTAGTCCTCTGCACAGAA	0.522000													6	38					0	0	0.001168	0	0
MAST4	375449	broad.mit.edu	37	5	66405958	66405958	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:66405958A>G	ENST00000404260.3	+	11	1706	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	MAST4_ENST00000405643.1_Silent_p.A284A|MAST4_ENST00000261569.7_Silent_p.A269A|MAST4_ENST00000490016.2_Silent_p.A274A|MAST4_ENST00000403666.1_Silent_p.A274A|MAST4_ENST00000403625.2_Silent_p.A463A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	466						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAGAATTGGCATTTATTAAAC	0.383000													5	79					0	0	0.001168	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68700833	68700833	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:68700833G>T	ENST00000283916.6	-	6	580	c.482C>A	c.(481-483)aCt>aAt	p.T161N	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.T44N	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	161	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGCCTGGTCAGTAAGTGCTAG	0.303000													4	30					0.000602214	0.000642934	0.000602	1	0
MADD	8567	broad.mit.edu	37	11	47311714	47311714	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:47311714G>T	ENST00000342922.4	+	18	3315	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	MADD_ENST00000407859.3_Missense_Mutation_p.K963N|MADD_ENST00000402192.2_Missense_Mutation_p.K986N|MADD_ENST00000395336.3_Missense_Mutation_p.K1006N|MADD_ENST00000395344.3_Missense_Mutation_p.K943N|MADD_ENST00000349238.3_Missense_Mutation_p.K1006N|MADD_ENST00000311027.5_Missense_Mutation_p.K1006N|MADD_ENST00000402799.1_Missense_Mutation_p.K943N|MADD_ENST00000406482.1_Missense_Mutation_p.K943N	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1006					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAGTCGGAAGGTGTACAAGG	0.557000													18	55					1.96292e-10	2.53826e-10	0.010504	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70819872	70819872	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:70819872C>A	ENST00000370944.4	-	1	533	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.G74C	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	74					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GCCGGGGCGCCGGGGGGATTG	0.637000													20	113					6.33239e-15	8.71429e-15	0.010504	1	0
OR4C3	256144	broad.mit.edu	37	11	48346800	48346800	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:48346800C>A	ENST00000319856.4	+	1	329	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTTCTATGGCTCCTAAACTC	0.463000													14	171					1.67942e-08	2.09056e-08	0.006122	1	0
SNUPN	10073	broad.mit.edu	37	15	75909787	75909787	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:75909787C>T	ENST00000371091.5	-	4	843	c.391G>A	c.(391-393)Gac>Aac	p.D131N	SNUPN_ENST00000567134.1_Missense_Mutation_p.D89N|SNUPN_ENST00000308588.5_Missense_Mutation_p.D89N|SNUPN_ENST00000564644.1_Missense_Mutation_p.D89N|SNUPN_ENST00000564675.1_Missense_Mutation_p.D89N			O95149	SPN1_HUMAN	snurportin 1	89	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TTGACAGTGTCAATGTCCATT	0.428000													23	108					0	0	0.003330	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858129	18858129	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:18858129C>T	ENST00000447925.2	-	7	1098	c.829G>A	c.(829-831)Gat>Aat	p.D277N	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.D142N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.D84N|PLCZ1_ENST00000539875.1_Missense_Mutation_p.D86N|PLCZ1_ENST00000538330.1_Missense_Mutation_p.D20N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.D279N	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	279	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCAGGAAAATCATCAAGCATA	0.393000													16	81					0	0	0.004007	0	0
HTR3B	9177	broad.mit.edu	37	11	113803761	113803761	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:113803761C>T	ENST00000260191.2	+	6	899	c.642C>T	c.(640-642)tcC>tcT	p.S214S	HTR3B_ENST00000537778.1_Silent_p.S203S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	214					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTGTGTCCTCCACATACAGCA	0.498000													6	45					0	0	0.001168	0	0
AHDC1	27245	broad.mit.edu	37	1	27875156	27875156	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:27875156C>A	ENST00000374011.2	-	6	4439	c.3471G>T	c.(3469-3471)acG>acT	p.T1157T	AHDC1_ENST00000247087.5_Silent_p.T1157T|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1157							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGACACAGCCGTCTGCTGCT	0.577000													15	64					9.16793e-09	1.14599e-08	0.004990	1	0
BAGE2	85319	broad.mit.edu	37	21	11049542	11049542	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr21:11049542C>A	ENST00000470054.1	-	0	566									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)		CATGATAGTGCTGACCACAAG	0.448000													18	170					2.21704e-12	2.95605e-12	0.002780	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890546	23890546	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:23890546T>G	ENST00000532292.1	-	1	629	c.535A>C	c.(535-537)Acc>Ccc	p.T179P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGAGCAAAGGTCTCCGGTGTG	0.587000													6	33					0	0	0.001984	0	0
DSG4	147409	broad.mit.edu	37	18	28983544	28983544	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:28983544T>C	ENST00000359747.4	+	11	1612	c.1583T>C	c.(1582-1584)gTt>gCt	p.V528A	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V528A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	528					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTTTCTGTGTTGTTGATGAG	0.393000													16	55					0	0	0.004007	0	0
TSKU	25987	broad.mit.edu	37	11	76507127	76507127	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:76507127A>T	ENST00000527881.1	+	2	1493	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	TSKU_ENST00000333090.4_Missense_Mutation_p.Q156L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	156						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					ACGCACAGTCAGGGCCGGGCA	0.657000													11	70					0	0	0.001368	0	0
LACRT	90070	broad.mit.edu	37	12	55026152	55026152	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:55026152T>A	ENST00000257867.4	-	3	179	c.126A>T	c.(124-126)gaA>gaT	p.E42D	LACRT_ENST00000547511.1_Missense_Mutation_p.E42D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	42					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CTGAGATCTCTTCATTAGGCT	0.502000													40	182					0	0	0.011902	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62372772	62372772	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:62372772C>G	ENST00000266077.2	+	3	383	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	111						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGCCGCTGCCCTTACAAGCCT	0.662000													7	44					0	0	0.001984	0	0
PTPRG	5793	broad.mit.edu	37	3	62180801	62180801	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:62180801G>C	ENST00000474889.1	+	10	1661	c.1284G>C	c.(1282-1284)cgG>cgC	p.R428R	PTPRG_ENST00000295874.10_Silent_p.R428R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	428	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTGTCGGAACGACATGC	0.547000													16	81					0	0	0.004007	0	0
ARPC2	10109	broad.mit.edu	37	2	219104121	219104121	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:219104121G>C	ENST00000295685.10	+	6	724	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ARPC2_ENST00000315717.5_Missense_Mutation_p.E155Q|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	155					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CAGGTATGTTGAGTCTAAAAA	0.413000													6	52					0	0	0.001984	0	0
C12orf71	728858	broad.mit.edu	37	12	27234391	27234391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:27234391G>A	ENST00000429849.2	-	2	556	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	176										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCGGTTGCCTGGCTTATCATC	0.478000													15	68					0	0	0.003163	0	0
NKAIN4	128414	broad.mit.edu	37	20	61881323	61881323	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:61881323G>A	ENST00000370316.3	-	2	245	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NKAIN4_ENST00000370313.1_5'UTR|NKAIN4_ENST00000370307.2_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	52						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					GGATGGTGCCGAAGAGTCCCA	0.622000													4	33					0	0	0.009096	0	0
PNPT1	87178	broad.mit.edu	37	2	55873549	55873549	+	Splice_Site	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:55873549C>A	ENST00000447944.2	-	20	1761		c.e20+1			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTAAAAATACCTGTAATGCA	0.279000													28	41					4.87955e-14	6.62383e-14	0.005443	1	0
POLQ	10721	broad.mit.edu	37	3	121206232	121206232	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:121206232C>T	ENST00000264233.5	-	16	5674	c.5546G>A	c.(5545-5547)cGa>cAa	p.R1849Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1849					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GATGGAAAATCGCTTTTTGCA	0.368000								DNA polymerases (catalytic subunits)					19	69					0	0	0.012319	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	52					3.86212e-05	4.3072e-05	0.008291	1	0
SLC44A5	204962	broad.mit.edu	37	1	75684425	75684425	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:75684425T>C	ENST00000370855.5	-	17	1392	c.1279A>G	c.(1279-1281)Act>Gct	p.T427A	SLC44A5_ENST00000370859.3_Missense_Mutation_p.T427A|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T297A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	427						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GCAATTTCAGTTGTATTAAAA	0.388000													9	50					0	0	0.004482	0	0
DYRK4	8798	broad.mit.edu	37	12	4702241	4702241	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:4702241G>C	ENST00000540757.2	+	4	352	c.192G>C	c.(190-192)tgG>tgC	p.W64C	DYRK4_ENST00000010132.5_Missense_Mutation_p.W64C|DYRK4_ENST00000543431.1_Missense_Mutation_p.W64C	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	64						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CGGAGCTGTGGTTCCTGGGTC	0.473000													11	63					0	0	0.008291	0	0
SCAF8	22828	broad.mit.edu	37	6	155116210	155116210	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:155116210G>C	ENST00000367178.3	+	6	1119	c.543G>C	c.(541-543)caG>caC	p.Q181H	SCAF8_ENST00000367186.4_Missense_Mutation_p.Q247H|SCAF8_ENST00000417268.1_Missense_Mutation_p.Q181H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	181					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GGGTATCTCAGATAACAAATA	0.438000													12	63					0	0	0.001368	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59982897	59982897	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:59982897C>A	ENST00000265036.5	-	2	273	c.206G>T	c.(205-207)cGc>cTc	p.R69L	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69L|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42L	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	69	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGTTTGTTTGCGGGTCACTTC	0.473000													26	73					1.85244e-09	2.37492e-09	0.003330	1	0
WDR38	401551	broad.mit.edu	37	9	127619860	127619860	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:127619860G>C	ENST00000373574.1	+	9	952	c.896G>C	c.(895-897)aGa>aCa	p.R299T		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	299										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GATCAGACTAGACGTCAAATA	0.567000													8	28					0	0	0.003080	0	0
NDUFA10	4705	broad.mit.edu	37	2	240954203	240954203	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:240954203C>A	ENST00000252711.2	-	5	722	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	NDUFA10_ENST00000307300.4_Missense_Mutation_p.D248Y|NDUFA10_ENST00000404554.1_Missense_Mutation_p.D208Y	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	208					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACGGGCACATCGATGTAAATC	0.507000													36	83					4.65686e-17	6.55896e-17	0.003755	1	0
ADPRHL1	113622	broad.mit.edu	37	13	114107628	114107628	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr13:114107628C>G	ENST00000375418.3	-	1	211	c.125G>C	c.(124-126)gGc>gCc	p.G42A		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	42					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GTGGTCCAGGCCCCCGGAACG	0.602000													12	46					0	0	0.010729	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343625	113343625	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:113343625A>G	ENST00000409719.1	+	2	130	c.77A>G	c.(76-78)aAg>aGg	p.K26R	CHCHD5_ENST00000324913.5_Missense_Mutation_p.K26R|CHCHD5_ENST00000489052.1_3'UTR			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	26										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						GTGGCGGCCAAGCCGGAATCC	0.627000													6	56					0	0	0.001984	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995760	57995760	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:57995760G>T	ENST00000316770.2	-	1	630	c.588C>A	c.(586-588)gaC>gaA	p.D196E		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCACGCGGATGTCAGCGCAGG	0.597000													8	30					6.5536e-12	8.66115e-12	0.003080	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148827870	148827870	+	Splice_Site	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:148827870T>A	ENST00000336498.3	+	11	1355	c.1116_splice	c.e11+1	p.A372_splice	ARHGAP10_ENST00000414545.2_Splice_Site_p.A21_splice	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	372	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAAGGAAGCTGTAAGAATAA	0.398000													11	63					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113276001	113276001	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:113276001C>G	ENST00000297405.5	-	61	9973	c.9729G>C	c.(9727-9729)agG>agC	p.R3243S	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3203S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3173S|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3074S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3243	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCTTCCAGCCTTCCATTAG	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	82					0	0	0.004482	0	0
SPTA1	6708	broad.mit.edu	37	1	158624504	158624504	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:158624504C>G	ENST00000368148.3	-	21	3113	c.2933G>C	c.(2932-2934)gGa>gCa	p.G978A	SPTA1_ENST00000368147.3_Missense_Mutation_p.G978A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	978	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTTGTTCTCCAGCAACTCC	0.502000													9	59					0	0	0.006214	0	0
SPIN2A	54466	broad.mit.edu	37	X	57162258	57162258	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:57162258G>T	ENST00000374908.1	-	1	1172	c.773C>A	c.(772-774)tCc>tAc	p.S258Y	SPIN2A_ENST00000374906.3_Missense_Mutation_p.S258Y			Q99865	SPI2A_HUMAN	spindlin family, member 2A	258					cell cycle|gamete generation					breast(1)|kidney(1)|ovary(1)	3						TAACAGTTAGGACTTTTTCAC	0.363000													6	18					0.000978159	0.00103327	0.010729	1	0
MROH7	374977	broad.mit.edu	37	1	55139467	55139467	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:55139467C>T	ENST00000414150.2	+	9	2067	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	MROH7_ENST00000454855.2_Silent_p.L115L|MROH7_ENST00000409996.1_Silent_p.L165L|MROH7_ENST00000395690.2_Silent_p.L597L|MROH7_ENST00000421030.2_Silent_p.L597L|MROH7_ENST00000545244.1_Silent_p.L165L|MROH7_ENST00000339553.5_Silent_p.L597L					maestro heat-like repeat family member 7																		GCTTCTAACTCTGCCTTTCTT	0.562000													12	72					0	0	0.001368	0	0
SLX4	84464	broad.mit.edu	37	16	3634823	3634823	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr16:3634823C>T	ENST00000294008.3	-	13	5326	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1562	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACTGTGGCATCGGCGTTATGG	0.507000								Direct reversal of damage					25	135					0	0	0.004656	0	0
TNKS	8658	broad.mit.edu	37	8	9605665	9605665	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:9605665T>A	ENST00000310430.6	+	18	2801	c.2775T>A	c.(2773-2775)caT>caA	p.H925Q	TNKS_ENST00000518281.1_Missense_Mutation_p.H688Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	925					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCCTAGCGCATGGTGCAGACC	0.512000													12	43					0	0	0.002450	0	0
PTPN11	5781	broad.mit.edu	37	12	112926931	112926931	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:112926931G>T	ENST00000351677.2	+	13	1749	c.1551G>T	c.(1549-1551)gcG>gcT	p.A517A		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	521	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCTATATGGCGGTCCAGCATT	0.498000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				32	166					1.04352e-10	1.36111e-10	0.003755	1	0
MARCO	8685	broad.mit.edu	37	2	119727747	119727747	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:119727747T>C	ENST00000541757.1	+	4	403	c.23T>C	c.(22-24)cTg>cCg	p.L8P	MARCO_ENST00000327097.4_Missense_Mutation_p.L86P			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	86					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AATGACACTCTGGCGGCTGAG	0.592000													12	37					0	0	0.010729	0	0
MLLT6	4302	broad.mit.edu	37	17	36872846	36872846	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:36872846G>A	ENST00000325718.7	+	10	1354	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	421					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGGCCCGGGCGCCCTCCCCTG	0.662000			T	MLL	AL								10	50					0	0	0.010729	0	0
POLL	27343	broad.mit.edu	37	10	103339491	103339491	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:103339491C>A	ENST00000370162.3	-	9	1941	c.1447G>T	c.(1447-1449)Ggg>Tgg	p.G483W	DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Missense_Mutation_p.G220W|POLL_ENST00000370158.3_Missense_Mutation_p.G208W|POLL_ENST00000370168.3_Missense_Mutation_p.G156W|POLL_ENST00000370169.1_Missense_Mutation_p.G483W|POLL_ENST00000370172.1_Missense_Mutation_p.G395W|POLL_ENST00000339310.3_Missense_Mutation_p.G206W|POLL_ENST00000299206.4_Missense_Mutation_p.G483W|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	483	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TGCCGCCGCCCTGGCCCTGGG	0.617000								DNA polymerases (catalytic subunits)					21	39					1.64113e-05	1.84397e-05	0.010504	1	0
ZNF675	171392	broad.mit.edu	37	19	23836867	23836867	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:23836867C>A	ENST00000359788.4	-	4	1036	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	290					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGCTTTGCCACATTCTTCA	0.383000													7	47					2.0095e-06	2.33663e-06	0.001984	1	0
HARS2	23438	broad.mit.edu	37	5	140075361	140075361	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:140075361C>T	ENST00000230771.3	+	6	787	c.564C>T	c.(562-564)ccC>ccT	p.P188P	HARS2_ENST00000437649.2_Silent_p.P114P|HARS2_ENST00000448069.2_Silent_p.P49P|HARS2_ENST00000435019.2_Silent_p.P148P|HARS2_ENST00000508522.1_Silent_p.P163P|HARS2_ENST00000432671.2_Silent_p.P74P	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	188					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATCCCCGATGCAGAGT	0.453000													27	109					0	0	0.008361	0	0
ZNF675	171392	broad.mit.edu	37	19	23836866	23836866	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:23836866C>A	ENST00000359788.4	-	4	1037	c.869G>T	c.(868-870)gGc>gTc	p.G290V	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	290					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAGGCTTTGCCACATTCTTC	0.378000													8	46					1.06961e-07	1.29913e-07	0.003080	1	0
PLCB1	23236	broad.mit.edu	37	20	8782774	8782774	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:8782774C>T	ENST00000378641.3	+	32	3970	c.3495C>T	c.(3493-3495)ccC>ccT	p.P1165P	PLCB1_ENST00000378637.2_Silent_p.P1165P|PLCB1_ENST00000338037.6_Intron	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTTTACTCCCCCCAACCCTC	0.552000													8	87					0	0	0.010729	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631778	126631778	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:126631778T>C	ENST00000359653.4	+	1	1087	c.716T>C	c.(715-717)gTg>gCg	p.V239A		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	239					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCTGGTGCTGTGGGAAGCAAG	0.423000													23	47					0	0	0.002299	0	0
LIMA1	51474	broad.mit.edu	37	12	50594612	50594612	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:50594612T>A	ENST00000547825.1	-	1	1283	c.14A>T	c.(13-15)gAg>gTg	p.E5V	LIMA1_ENST00000394943.3_Missense_Mutation_p.E307V|LIMA1_ENST00000552823.1_Missense_Mutation_p.E147V|LIMA1_ENST00000552909.1_Missense_Mutation_p.E147V|LIMA1_ENST00000552783.1_Missense_Mutation_p.E147V|LIMA1_ENST00000552491.1_Missense_Mutation_p.E5V|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000341247.4_Missense_Mutation_p.E307V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	307					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGCACATTCTCCTTTTGCTC	0.408000													45	212					0	0	0.011902	0	0
BAI3	577	broad.mit.edu	37	6	70071006	70071006	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:70071006G>T	ENST00000370598.1	+	29	4662	c.3841G>T	c.(3841-3843)Gtg>Ttg	p.V1281L	BAI3_ENST00000238918.8_Missense_Mutation_p.V487L|BAI3_ENST00000546190.1_Missense_Mutation_p.V245L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1281					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGGAGAACTGTGTACTTATG	0.413000													6	46					0.00116845	0.00122564	0.001168	1	0
IBTK	25998	broad.mit.edu	37	6	82910358	82910358	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:82910358A>G	ENST00000306270.7	-	20	3407	c.2858T>C	c.(2857-2859)gTa>gCa	p.V953A	IBTK_ENST00000503631.1_Missense_Mutation_p.V752A|IBTK_ENST00000510291.1_Missense_Mutation_p.V953A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	953					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCATCTTCTACTTCCAAATA	0.313000													3	20					0	0	0.004672	0	0
ACSBG1	23205	broad.mit.edu	37	15	78487059	78487059	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:78487059A>T	ENST00000258873.4	-	3	447	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	81					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGTCGTCCACAGCGCCTCCTC	0.657000													7	46					0	0	0.003080	0	0
OFD1	8481	broad.mit.edu	37	X	13778743	13778743	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:13778743G>T	ENST00000380567.1	+	17	2616	c.1744G>T	c.(1744-1746)Gcc>Tcc	p.A582S	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.A722S|OFD1_ENST00000380550.3_Missense_Mutation_p.A682S			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	722					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGGCAGTGCAGCCTCGAGGCT	0.517000													17	48					2.23348e-06	2.58705e-06	0.004007	1	0
TRO	7216	broad.mit.edu	37	X	54952076	54952076	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:54952076C>T	ENST00000173898.7	+	7	1649	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	TRO_ENST00000319167.8_Missense_Mutation_p.L513F|TRO_ENST00000399736.1_Missense_Mutation_p.L116F|TRO_ENST00000420798.2_Missense_Mutation_p.L44F|TRO_ENST00000375022.4_Missense_Mutation_p.L513F|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375041.2_Missense_Mutation_p.L116F	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	513	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTTGTATATTCTCATCAGCAC	0.438000													3	16					0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40368434	40368434	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:40368434T>A	ENST00000221347.6	-	28	12921	c.12914A>T	c.(12913-12915)aAg>aTg	p.K4305M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4305						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACACAGCCCTTGAAGAAGCT	0.627000													26	142					0	0	0.008361	0	0
C1orf177	163747	broad.mit.edu	37	1	55277503	55277503	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:55277503G>A	ENST00000358193.3	+	5	571	c.517G>A	c.(517-519)Ggt>Agt	p.G173S	C1orf177_ENST00000371273.3_Missense_Mutation_p.G173S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	173										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGGGGAGAAGGGTAACCCATA	0.582000													5	36					0	0	0.000602	0	0
UBN1	29855	broad.mit.edu	37	16	4920857	4920857	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr16:4920857G>C	ENST00000396658.4	+	10	2146	c.1443G>C	c.(1441-1443)gaG>gaC	p.E481D	UBN1_ENST00000262376.6_Missense_Mutation_p.E481D|UBN1_ENST00000545171.1_Missense_Mutation_p.E481D|UBN1_ENST00000590769.1_Missense_Mutation_p.E481D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	481					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCTGGAAGAGGAGAAAGACA	0.537000													6	20					0	0	0.001168	0	0
INPPL1	3636	broad.mit.edu	37	11	71944745	71944745	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:71944745G>T	ENST00000541756.1	+	19	2373	c.1443G>T	c.(1441-1443)ggG>ggT	p.G481G	INPPL1_ENST00000538751.1_Silent_p.G481G|INPPL1_ENST00000298229.2_Silent_p.G723G			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	723					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTGTTTGGGACATTTGAGG	0.542000													17	81					7.41877e-09	9.31227e-09	0.012319	1	0
SMARCC2	6601	broad.mit.edu	37	12	56574782	56574782	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:56574782C>G	ENST00000394023.3	-	11	1165	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E354Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E354Q|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E354Q	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	354					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGTGTCACCTCTTCTACATTG	0.547000													29	150					0	0	0.008361	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460177	113460177	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:113460177A>G	ENST00000538576.1	-	4	1682	c.851T>C	c.(850-852)cTt>cCt	p.L284P	SLC16A1_ENST00000433570.4_Missense_Mutation_p.L284P|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L284P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	284					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATAACTACTAAGAAACACCAA	0.433000													10	46					0	0	0.008291	0	0
PSMB1	5689	broad.mit.edu	37	6	170846342	170846342	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:170846342G>C	ENST00000262193.6	-	5	618	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	AGCAGGGGCTGTAGCATGGCA	0.473000													6	29					0	0	0.001168	0	0
KAT7	11143	broad.mit.edu	37	17	47903416	47903416	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:47903416C>T	ENST00000503935.2	+	13	2103	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	KAT7_ENST00000259021.4_Missense_Mutation_p.S512L|KAT7_ENST00000454930.2_Missense_Mutation_p.S373L|KAT7_ENST00000435742.2_Missense_Mutation_p.S326L|KAT7_ENST00000424009.2_Missense_Mutation_p.S482L|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.S343L|KAT7_ENST00000509773.1_Missense_Mutation_p.S402L			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	512					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CGTCCACTCTCAGATCTGGGG	0.418000													20	97					0	0	0.010504	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844905	18844905	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:18844905C>A	ENST00000412938.1	+	0	3155																											TTCAGCGTGCCTGCGATGGCG	0.572000													12	94					3.07112e-06	3.51655e-06	0.010729	1	0
VWA3B	200403	broad.mit.edu	37	2	98736074	98736074	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:98736074C>T	ENST00000477737.1	+	4	594	c.390C>T	c.(388-390)agC>agT	p.S130S	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.S130S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	130										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGCAAGAGCCGGCAGATTT	0.493000													48	110					0	0	0.003610	0	0
OR2F1	26211	broad.mit.edu	37	7	143657989	143657989	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:143657989C>A	ENST00000392899.1	+	1	963	c.926C>A	c.(925-927)tCt>tAt	p.S309Y		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGAAATTCTCTGGGTTAACA	0.433000													12	58					1.61879e-10	2.10233e-10	0.001368	1	0
NAPG	8774	broad.mit.edu	37	18	10550089	10550089	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:10550089C>T	ENST00000322897.6	+	12	880	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	NAPG_ENST00000542979.1_Silent_p.L189L	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	271					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						TAAGCTGGGCCTGAGTTTGGT	0.478000													7	35					0	0	0.003080	0	0
OR2T4	127074	broad.mit.edu	37	1	248525593	248525593	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:248525593C>A	ENST00000366475.1	+	1	711	c.711C>A	c.(709-711)ctC>ctA	p.L237L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGTGTCCTCATGCTCCTCA	0.473000													100	107					2.78421e-50	4.05468e-50	0.003610	1	0
IMMP2L	83943	broad.mit.edu	37	7	110603617	110603617	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:110603617G>A	ENST00000405709.2	-	4	686	c.244C>T	c.(244-246)Cct>Tct	p.P82S	IMMP2L_ENST00000450877.1_Missense_Mutation_p.P64S|IMMP2L_ENST00000437687.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000331762.3_Missense_Mutation_p.P82S|IMMP2L_ENST00000452895.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000447215.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000489381.1_5'UTR	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	82					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGGTTTTTAGGAGACCTAGAA	0.303000													6	35					0	0	0.001168	0	0
ITGB4	3691	broad.mit.edu	37	17	73723516	73723516	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:73723516C>T	ENST00000200181.3	+	4	381	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ITGB4_ENST00000449880.2_Missense_Mutation_p.A65V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.A65V|ITGB4_ENST00000339591.3_Missense_Mutation_p.A65V|ITGB4_ENST00000450894.3_Missense_Mutation_p.A65V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	65	PSI.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACACCCAGGCGGAGCTGCTG	0.657000													4	36					0	0	0.009096	0	0
RNF150	57484	broad.mit.edu	37	4	141847164	141847164	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:141847164G>A	ENST00000306799.3	-	5	1481	c.828C>T	c.(826-828)tgC>tgT	p.C276C	RNF150_ENST00000507500.1_Silent_p.C318C|RNF150_ENST00000515673.1_Silent_p.C318C|RNF150_ENST00000420921.2_Silent_p.C177C|RNF150_ENST00000379512.2_Silent_p.C177C	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	318						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGTTCATCTTGCACATGGGAC	0.493000													6	43					0	0	0.001168	0	0
HIAT1	64645	broad.mit.edu	37	1	100527433	100527433	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:100527433G>A	ENST00000370152.3	+	5	550	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	138					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTTTGCAGTGACTTTTTCTG	0.353000													7	64					0	0	0.001984	0	0
UNC5C	8633	broad.mit.edu	37	4	96140247	96140247	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:96140247G>T	ENST00000453304.1	-	9	1866	c.1518C>A	c.(1516-1518)acC>acA	p.T506T	UNC5C_ENST00000506749.1_Silent_p.T525T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	506					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACAACGACTGGGTCATCTGAG	0.527000													12	82					0.00010058	0.000111755	0.001368	1	0
SLC22A11	55867	broad.mit.edu	37	11	64329845	64329845	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:64329845G>T	ENST00000301891.4	+	4	1133	c.759G>T	c.(757-759)cgG>cgT	p.R253R	SLC22A11_ENST00000377585.3_Silent_p.R253R|SLC22A11_ENST00000377581.3_Silent_p.R253R|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	253					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTGCCCTGCGGGACTGGAGGA	0.627000													19	117					4.35082e-09	5.55423e-09	0.010504	1	0
CYB5R4	51167	broad.mit.edu	37	6	84627753	84627753	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:84627753A>G	ENST00000369681.4	+	6	615	c.475A>G	c.(475-477)Aca>Gca	p.T159A		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	159					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTGACAGATACACTTGCCAA	0.284000													12	45					0	0	0.001855	0	0
PTPRD	5789	broad.mit.edu	37	9	8517968	8517968	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:8517968G>C	ENST00000381196.4	-	18	1966	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	PTPRD_ENST00000540109.1_Missense_Mutation_p.Q475E|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q462E|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q475E|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q475E|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q462E|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q472E|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q465E|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q475E|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q472E|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q465E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	475	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAGTGATTTGGCTGTCAGCT	0.408000										TSP Lung(15;0.13)			19	103					0	0	0.006122	0	0
KDELC2	143888	broad.mit.edu	37	11	108357018	108357018	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:108357018T>A	ENST00000434945.2	-	2	684	c.382A>T	c.(382-384)Aaa>Taa	p.K128*	KDELC2_ENST00000323468.5_Nonsense_Mutation_p.K184*|KDELC2_ENST00000375648.1_Nonsense_Mutation_p.K128*			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	184						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		CCAAACCTTTTGGGGACTTCT	0.418000													28	104					0	0	0.008361	0	0
MAS1L	116511	broad.mit.edu	37	6	29455123	29455123	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:29455123G>C	ENST00000377127.3	-	1	615	c.557C>G	c.(556-558)cCa>cGa	p.P186R		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	186						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGTGTATTTTGGGCGGTGGCA	0.483000													7	62					0	0	0.001984	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582498	24582498	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:24582498C>T	ENST00000535378.1	-	7	1785	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	KIAA0319_ENST00000430948.2_Silent_p.K345K|KIAA0319_ENST00000378214.3_Silent_p.K390K|KIAA0319_ENST00000537886.1_Silent_p.K390K|KIAA0319_ENST00000543707.1_Silent_p.K390K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	390	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TAAGAGTTTGCTTGTGTCCTT	0.393000													19	109					0	0	0.006122	0	0
PI4KA	5297	broad.mit.edu	37	22	21096549	21096549	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr22:21096549C>A	ENST00000255882.6	-	32	3794	c.3708G>T	c.(3706-3708)tgG>tgT	p.W1236C	PI4KA_ENST00000572273.1_Missense_Mutation_p.W1178C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1178					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGCCAGCAGCCACTCCCAGC	0.607000											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	113					5.35047e-06	6.1032e-06	0.003330	1	0
C3orf22	152065	broad.mit.edu	37	3	126268894	126268894	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr3:126268894C>A	ENST00000318225.2	-	4	621	c.243G>T	c.(241-243)ccG>ccT	p.P81P		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	81										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		AGGAGCCAGACGGTGATGTAA	0.607000													10	32					0.010729	0.0109854	0.010729	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454623	84454623	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr13:84454623G>T	ENST00000377084.2	-	1	1905	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	340	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCCAGGGCAGGGTAAACTGT	0.542000													15	57					1.52009e-12	2.03584e-12	0.003163	1	0
MKS1	54903	broad.mit.edu	37	17	56291678	56291678	+	Missense_Mutation	SNP	C	C	G	rs140677541	by1000genomes	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:56291678C>G	ENST00000393119.2	-	6	660	c.586G>C	c.(586-588)Gtc>Ctc	p.V196L	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Missense_Mutation_p.V196L|MKS1_ENST00000537529.2_Missense_Mutation_p.V186L|MKS1_ENST00000337050.7_Missense_Mutation_p.V196L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	196					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGTTAATGACGTGGTTGTTC	0.542000													15	64					0	0	0.003163	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826457	34826457	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:34826457C>T	ENST00000192788.5	+	14	2495	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S775L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	775										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATCCGCGGTCAAAGACTGAA	0.488000													12	85					0	0	0.010729	0	0
SLFN13	146857	broad.mit.edu	37	17	33768259	33768259	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:33768259C>T	ENST00000285013.6	-	6	2324	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K	SLFN13_ENST00000526861.1_Silent_p.K683K|SLFN13_ENST00000542635.1_Silent_p.K683K|SLFN13_ENST00000534689.1_Silent_p.K365K|SLFN13_ENST00000533791.1_Silent_p.K683K|SLFN13_ENST00000360502.2_Silent_p.K365K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	683						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGTTTTTGCCTTCCTATACC	0.458000													17	106					0	0	0.004007	0	0
EMR2	30817	broad.mit.edu	37	19	14866636	14866636	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:14866636C>G	ENST00000315576.3	-	13	1697	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	EMR2_ENST00000596991.2_Missense_Mutation_p.E405Q|EMR2_ENST00000353005.1_Missense_Mutation_p.E274Q|EMR2_ENST00000353876.1_Missense_Mutation_p.E323Q|EMR2_ENST00000392967.2_Missense_Mutation_p.E405Q|EMR2_ENST00000595839.1_Missense_Mutation_p.E274Q|EMR2_ENST00000346057.1_Missense_Mutation_p.E367Q|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.E367Q|EMR2_ENST00000392965.3_Missense_Mutation_p.E416Q|EMR2_ENST00000601345.1_Missense_Mutation_p.E405Q|EMR2_ENST00000594076.1_Missense_Mutation_p.E323Q	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	416					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGAGGGGCCTCAGCCAGCAAC	0.582000													4	33					0	0	0.009096	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048546	103048546	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:103048546C>A	ENST00000375735.2	+	38	6280	c.6136C>A	c.(6136-6138)Caa>Aaa	p.Q2046K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2046K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2046	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCGGGAACCTCAAGGTTAGTC	0.358000													10	23					3.07112e-06	3.51655e-06	0.010729	1	0
LRP6	4040	broad.mit.edu	37	12	12300342	12300342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:12300342C>A	ENST00000261349.4	-	15	3431	c.3355G>T	c.(3355-3357)Gct>Tct	p.A1119S	LRP6_ENST00000543091.1_Missense_Mutation_p.A1119S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1119	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCTGAATCAGCCCAAAAGAGC	0.423000													14	80					0.000308642	0.000331873	0.003163	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270129	185270129	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:185270129C>T	ENST00000367498.3	-	10	1717	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.E147E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	365	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGCCATTCATCTCTGCTGTTC	0.433000													22	87					0	0	0.002299	0	0
POLD4	57804	broad.mit.edu	37	11	67120164	67120164	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:67120164G>A	ENST00000312419.3	-	3	443	c.297C>T	c.(295-297)tgC>tgT	p.C99C	AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_5'UTR|POLD4_ENST00000539074.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	99					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			TCTCTGACCTGCACTGGAAGC	0.657000													9	35					0	0	0.004482	0	0
M1AP	130951	broad.mit.edu	37	2	74789538	74789538	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:74789538G>T	ENST00000290536.5	-	8	1203	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	M1AP_ENST00000409585.1_Missense_Mutation_p.L363M|M1AP_ENST00000358434.2_Intron|M1AP_ENST00000536235.1_Missense_Mutation_p.L363M|M1AP_ENST00000464686.1_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		GCTAACAGCAGCCATTCCCTT	0.498000													27	42					2.44723e-14	3.33713e-14	0.004656	1	0
MARCH7	64844	broad.mit.edu	37	2	160605023	160605023	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:160605023G>A	ENST00000259050.3	+	5	1344	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	MARCH7_ENST00000539065.1_Missense_Mutation_p.E352K|MARCH7_ENST00000409175.1_Missense_Mutation_p.E408K|MARCH7_ENST00000409591.1_Missense_Mutation_p.E370K	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	408	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GGGAAGAGATGAATCTTCAAG	0.398000													15	76					0	0	0.003163	0	0
ZNF223	7766	broad.mit.edu	37	19	44571045	44571045	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:44571045G>T	ENST00000591793.1	+	7	1477	c.1394G>T	c.(1393-1395)cGg>cTg	p.R465L	ZNF223_ENST00000434772.3_Missense_Mutation_p.R355L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGCTTCAGACGGTCCTCCTAT	0.443000													31	74					1.88708e-17	2.6704e-17	0.008361	1	0
OR10R2	343406	broad.mit.edu	37	1	158450450	158450450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:158450450C>A	ENST00000368152.1	+	1	783	c.783C>A	c.(781-783)tgC>tgA	p.C261*	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTTCCACCTGCGCCTCTCACC	0.473000													19	65					8.28177e-16	1.15025e-15	0.007413	1	0
FBXO48	554251	broad.mit.edu	37	2	68692136	68692136	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:68692136T>C	ENST00000377957.2	-	3	549	c.142A>G	c.(142-144)Agt>Ggt	p.S48G		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	48	F-box.									endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TCCAGCTGACTGAAAATTTTA	0.418000													20	79					0	0	0.010504	0	0
C17orf98	388381	broad.mit.edu	37	17	36997588	36997588	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:36997588C>A	ENST00000398575.4	-	1	120	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	19										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						ACAGCCACCCCGTCCAAGATA	0.647000													8	50					0.000157383	0.000173585	0.003080	1	0
VAV1	7409	broad.mit.edu	37	19	6848029	6848029	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:6848029G>A	ENST00000304076.2	+	22	2061	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R646Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R623Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R678Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R581Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	678	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCCATGGAGCGGGCAGGGGCA	0.592000													19	52					0	0	0.008871	0	0
PAOX	196743	broad.mit.edu	37	10	135203163	135203163	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:135203163G>T	ENST00000278060.5	+	6	1387	c.1304G>T	c.(1303-1305)gGg>gTg	p.G435V	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	573					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)		TACACTAGGGGGTCCTACAGC	0.682000													14	28					9.31168e-06	1.05019e-05	0.001855	1	0
KCND3	3752	broad.mit.edu	37	1	112524485	112524485	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:112524485C>T	ENST00000369697.1	-	1	933	c.864G>A	c.(862-864)acG>acA	p.T288T	KCND3_ENST00000315987.2_Silent_p.T288T|KCND3_ENST00000302127.4_Silent_p.T288T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	288						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGACCCGGAGCGTGACGAAGG	0.602000													9	51					0	0	0.004482	0	0
TBX15	6913	broad.mit.edu	37	1	119427585	119427585	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:119427585T>A	ENST00000369429.3	-	8	1588	c.1579A>T	c.(1579-1581)Agg>Tgg	p.R527W	TBX15_ENST00000207157.3_Missense_Mutation_p.R421W			Q96SF7	TBX15_HUMAN	T-box 15	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCAGCTAGCCTAGGGGAAGTG	0.537000													5	30					0	0	0.000602	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356902	37356902	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:37356902G>T	ENST00000217420.1	+	2	1461	c.1198G>T	c.(1198-1200)Gcc>Tcc	p.A400S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	400					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.A400T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCATTCTTTGCCGCTGTCGA	0.627000													15	53					3.32936e-07	3.94786e-07	0.006122	1	0
ACSM5	54988	broad.mit.edu	37	16	20451726	20451726	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr16:20451726C>A	ENST00000331849.4	+	14	1864	c.1717C>A	c.(1717-1719)Cga>Aga	p.R573R	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	573					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGTAAATTGCGAAGTCAGGA	0.483000													6	35					2.74318e-10	3.53199e-10	0.006214	1	0
C1QL2	165257	broad.mit.edu	37	2	119915264	119915264	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:119915264C>A	ENST00000272520.3	-	1	1201	c.582G>T	c.(580-582)aaG>aaT	p.K194N		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	194	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GGCAGCTGAACTTGCCCGTGG	0.597000										HNSCC(49;0.14)			11	23					5.16669e-11	6.79827e-11	0.010729	1	0
NDUFS8	4728	broad.mit.edu	37	11	67804059	67804059	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:67804059G>A	ENST00000313468.5	+	7	739	c.632G>A	c.(631-633)tGa>tAa	p.*211*	NDUFS8_ENST00000528492.1_Silent_p.*65*	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	0					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	TTGTATCGGTGACGCCCCACC	0.622000													11	17					0	0	0.003163	0	0
FAM91A1	157769	broad.mit.edu	37	8	124824840	124824840	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:124824840G>A	ENST00000334705.7	+	24	2659	c.2413G>A	c.(2413-2415)Gtt>Att	p.V805I		NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	805										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGACATGGGTGTTCCACTTCC	0.393000													16	87					0	0	0.003163	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171550	207171550	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:207171550T>A	ENST00000374423.3	+	5	2684	c.2298T>A	c.(2296-2298)caT>caA	p.H766Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	766							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCAGTCTCATCTGGATGCTG	0.408000													63	121					0	0	0.003610	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262642	132262642	+	Silent	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:132262642T>A	ENST00000261674.4	+	14	2316	c.2175T>A	c.(2173-2175)acT>acA	p.T725T	SFSWAP_ENST00000541286.1_Silent_p.T725T	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	725					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTCTACTGACTGGAGGCAGGC	0.423000													4	43					0	0	0.009096	0	0
KLHL5	51088	broad.mit.edu	37	4	39109252	39109252	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:39109252A>G	ENST00000261425.3	+	9	1741	c.1589A>G	c.(1588-1590)aAc>aGc	p.N530S	KLHL5_ENST00000504108.1_Missense_Mutation_p.N576S|KLHL5_ENST00000261426.5_Missense_Mutation_p.N515S|KLHL5_ENST00000508137.2_Missense_Mutation_p.N389S|KLHL5_ENST00000359687.2_Missense_Mutation_p.N576S|KLHL5_ENST00000381930.3_Missense_Mutation_p.N576S	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	576						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGCTATCTGAACACAGTGGAA	0.493000													13	63					0	0	0.001368	0	0
CPEB1	64506	broad.mit.edu	37	15	83222209	83222209	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:83222209C>T	ENST00000562019.1	-	7	1387	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	CPEB1_ENST00000563800.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.M282I|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Intron|RP11-152F13.10_ENST00000562833.1_Intron|CPEB1_ENST00000450751.2_Intron|CPEB1_ENST00000568757.1_Intron|CPEB1_ENST00000568128.1_Intron|CPEB1_ENST00000423133.2_Intron|CPEB1_ENST00000564522.1_Intron|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	357	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TACCTTTAGGCATATTACCTT	0.478000													6	33					0	0	0.001168	0	0
DLC1	10395	broad.mit.edu	37	8	12958070	12958070	+	Silent	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:12958070A>T	ENST00000276297.4	-	9	2185	c.1776T>A	c.(1774-1776)tcT>tcA	p.S592S	DLC1_ENST00000512044.2_Silent_p.S189S|DLC1_ENST00000358919.2_Silent_p.S155S|DLC1_ENST00000520226.1_Silent_p.S81S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	592					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGCGGACGGAAGACACCTCCT	0.687000													10	45					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237941998	237941998	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:237941998A>G	ENST00000366574.2	+	88	12125	c.11808A>G	c.(11806-11808)gcA>gcG	p.A3936A	RYR2_ENST00000360064.6_Silent_p.A3942A|RYR2_ENST00000542537.1_Silent_p.A3920A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3936					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)			AGAGTTTGGCACACAGCAGGC	0.448000													32	37					0	0	0.003755	0	0
NOM1	64434	broad.mit.edu	37	7	156762350	156762350	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:156762350G>A	ENST00000275820.3	+	11	2551	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	846					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAGAAAGCTGACCTTGCAAC	0.507000													24	90					0	0	0.003330	0	0
DTX1	1840	broad.mit.edu	37	12	113531362	113531362	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr12:113531362T>C	ENST00000257600.3	+	4	1525	c.1022T>C	c.(1021-1023)cTg>cCg	p.L341P	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	341	Pro-rich.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGATACTGCTGTGCGCGGCC	0.741000													4	11					0	0	0.009096	0	0
DTNA	1837	broad.mit.edu	37	18	32407596	32407596	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:32407596C>G	ENST00000283365.9	+	12	1401	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000399113.3_Missense_Mutation_p.F350L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	350					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACACCCTGTTCTCCCACTCTG	0.403000													15	94					0	0	0.006122	0	0
FCRL5	83416	broad.mit.edu	37	1	157514712	157514712	+	Silent	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:157514712T>A	ENST00000361835.3	-	4	625	c.468A>T	c.(466-468)gcA>gcT	p.A156A	FCRL5_ENST00000368189.3_Silent_p.A156A|FCRL5_ENST00000356953.4_Silent_p.A156A|FCRL5_ENST00000368191.3_Silent_p.A71A|FCRL5_ENST00000368190.3_Silent_p.A156A	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	156						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)				CCTTGAGACATGCATGAGGAA	0.403000													54	126					0	0	0.003610	0	0
IL2RA	3559	broad.mit.edu	37	10	6066217	6066217	+	Silent	SNP	C	C	A	rs150164762		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:6066217C>A	ENST00000379959.3	-	3	530	c.357G>T	c.(355-357)gcG>gcT	p.A119A	IL2RA_ENST00000256876.6_Silent_p.A119A|IL2RA_ENST00000379954.1_Silent_p.A119A	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	119					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGGAAGGCTCGCTTGGTCCA	0.507000													17	28					1.99824e-07	2.39788e-07	0.004990	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121659316	121659316	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:121659316A>G	ENST00000393386.2	+	13	5393	c.4982A>G	c.(4981-4983)tAc>tGc	p.Y1661C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y801C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1661					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTCTCATCTACTGGAGGTAA	0.388000													16	58					0	0	0.006122	0	0
BPIFA2	140683	broad.mit.edu	37	20	31757049	31757049	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr20:31757049T>C	ENST00000253362.2	+	2	244	c.98T>C	c.(97-99)gTg>gCg	p.V33A	BPIFA2_ENST00000354932.5_Missense_Mutation_p.V33A			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	33						extracellular region	lipid binding										AGCAATGTCGTGGATAAGCTG	0.453000													27	116					0	0	0.007291	0	0
SPAM1	6677	broad.mit.edu	37	7	123594452	123594452	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:123594452C>A	ENST00000340011.5	+	3	1185	c.828C>A	c.(826-828)ctC>ctA	p.L276L	SPAM1_ENST00000439500.1_Silent_p.L276L|SPAM1_ENST00000460182.1_Silent_p.L276L|SPAM1_ENST00000402183.2_Silent_p.L276L|SPAM1_ENST00000223028.7_Silent_p.L276L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	276					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTGCTACACTCTATGTGCGCA	0.423000													12	80					7.03913e-09	8.87285e-09	0.001368	1	0
NOTCH1	4851	broad.mit.edu	37	9	139393423	139393423	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr9:139393423G>A	ENST00000277541.6	-	33	6183	c.6108C>T	c.(6106-6108)gcC>gcT	p.A2036A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2036					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTTCACGGCGGCGGCCCAGT	0.617000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			26	108					0	0	0.007291	0	0
TAF2	6873	broad.mit.edu	37	8	120809335	120809335	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:120809335A>T	ENST00000378164.2	-	8	1284	c.986T>A	c.(985-987)cTt>cAt	p.L329H		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	329					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGTGTAAAAGATTTGTGCT	0.323000													7	62					0	0	0.001984	0	0
LRRN3	54674	broad.mit.edu	37	7	110764581	110764581	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:110764581C>G	ENST00000451085.1	+	4	2799	c.1753C>G	c.(1753-1755)Cca>Gca	p.P585A	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P585A|LRRN3_ENST00000422987.3_Missense_Mutation_p.P585A|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	585	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCATCTGAATCCATCAACTGA	0.363000													4	40					0	0	0.009096	0	0
EPX	8288	broad.mit.edu	37	17	56277677	56277677	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:56277677G>A	ENST00000225371.5	+	10	1739	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	543					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCGGGACCGGCTGTTTCGGC	0.642000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	75					0	0	0.001368	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697905	17697905	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:17697905G>T	ENST00000399080.2	-	1	1801	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	593										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTGTTAAAGAGTCAAAGTT	0.264000													4	30					0.00024832	0.000271883	0.009096	1	0
SMARCA4	6597	broad.mit.edu	37	19	11105504	11105504	+	Splice_Site	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:11105504G>T	ENST00000358026.2	+	9	1704	c.1419_splice	c.e9-1	p.E474_splice	SMARCA4_ENST00000589677.1_Splice_Site_p.E474_splice|SMARCA4_ENST00000444061.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000590574.1_Splice_Site_p.E474_splice|SMARCA4_ENST00000541122.2_Splice_Site_p.E474_splice|SMARCA4_ENST00000429416.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000344626.4_Splice_Site_p.E474_splice|SMARCA4_ENST00000450717.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000413806.3_Splice_Site_p.E474_splice	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	474	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTCCTGCAGGAATACCTCAA	0.483000			"""F, N, Mis"""		NSCLC								5	30					0.000602214	0.000642934	0.000602	1	0
NRXN3	9369	broad.mit.edu	37	14	79175737	79175737	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr14:79175737C>T	ENST00000554719.1	+	4	771	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R94C|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAACACTAAACGTATGGGCTC	0.527000													8	57					0	0	0.006214	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802692	128802692	+	Missense_Mutation	SNP	G	G	A	rs142211237		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr7:128802692G>A	ENST00000289407.4	+	4	416	c.307G>A	c.(307-309)Gct>Act	p.A103T		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	103						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTGCCTCACCGCTGTGTTCCT	0.622000													40	190					0	0	0.007835	0	0
RBM15	64783	broad.mit.edu	37	1	110882321	110882321	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:110882321C>G	ENST00000369784.3	+	1	1194	c.294C>G	c.(292-294)ctC>ctG	p.L98L	RBM15_ENST00000602849.1_Silent_p.L98L|RBM15_ENST00000487146.2_Silent_p.L98L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	98	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGAGTCTCCACCTGGACA	0.637000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	26					0	0	0.010729	0	0
FCGBP	8857	broad.mit.edu	37	19	40392512	40392512	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:40392512G>C	ENST00000221347.6	-	16	7999	c.7992C>G	c.(7990-7992)ctC>ctG	p.L2664L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2664	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGGAGAGGAGCCCACAGA	0.627000													12	48					0	0	0.001368	0	0
C2CD3	26005	broad.mit.edu	37	11	73803558	73803558	+	Silent	SNP	T	T	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:73803558T>G	ENST00000334126.7	-	19	3646	c.3420A>C	c.(3418-3420)gtA>gtC	p.V1140V	C2CD3_ENST00000313663.7_Silent_p.V1140V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1140						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCTGGGTGGTTACCATAGCAC	0.448000													10	41					0	0	0.008291	0	0
TMEM202	338949	broad.mit.edu	37	15	72691225	72691225	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr15:72691225T>C	ENST00000341689.3	+	2	367	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	105						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGAGCTGTGCTGGAGCCACAC	0.532000													7	107					0	0	0.004482	0	0
GRIA4	2893	broad.mit.edu	37	11	105795189	105795189	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr11:105795189C>T	ENST00000393127.2	+	12	1987	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	GRIA4_ENST00000282499.5_Missense_Mutation_p.S514F|GRIA4_ENST00000525187.1_Missense_Mutation_p.S514F|GRIA4_ENST00000530497.1_Missense_Mutation_p.S514F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	514					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTGACTTTTCTAAGCCCTTC	0.413000													32	101					0	0	0.008361	0	0
VAX2	25806	broad.mit.edu	37	2	71160317	71160317	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:71160317A>T	ENST00000234392.2	+	3	888	c.856A>T	c.(856-858)Aag>Tag	p.K286*		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	286					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CAGCAGCTGCAAGAAAGCTAA	0.627000													8	21					0	0	0.004482	0	0
HCN1	348980	broad.mit.edu	37	5	45303826	45303826	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:45303826G>T	ENST00000303230.4	-	6	1550	c.1493C>A	c.(1492-1494)cCt>cAt	p.P498H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	498						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATAATCTCCAGGTTGAAACAC	0.403000													51	93					4.88482e-21	7.04842e-21	0.003610	1	0
NOTCH4	4855	broad.mit.edu	37	6	32165125	32165125	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:32165125C>T	ENST00000375023.3	-	27	5141	c.5003G>A	c.(5002-5004)cGc>cAc	p.R1668H	NOTCH4_ENST00000443903.2_Missense_Mutation_p.R77H	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1668					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAGGGGTGTGCGCCCTGCCCG	0.652000													8	60					0	0	0.006214	0	0
NFATC1	4772	broad.mit.edu	37	18	77227581	77227581	+	Splice_Site	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:77227581C>T	ENST00000253506.5	+	8	2460	c.2092_splice	c.e8+1	p.N697_splice	NFATC1_ENST00000586434.1_Splice_Site_p.N684_splice|NFATC1_ENST00000592223.1_Silent_p.N684N|NFATC1_ENST00000545796.1_Splice_Site_p.N225_splice|NFATC1_ENST00000542384.1_Splice_Site_p.N697_splice|NFATC1_ENST00000427363.2_Splice_Site_p.N697_splice|NFATC1_ENST00000397790.2_Splice_Site_p.N225_splice|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000318065.5_Splice_Site_p.N684_splice|NFATC1_ENST00000329101.4_Splice_Site_p.N684_splice|NFATC1_ENST00000591814.1_Silent_p.N697N	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	697					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TTCCCGCCAACGGTAACGCCA	0.542000													6	35					0	0	0.003080	0	0
RFPL3	10738	broad.mit.edu	37	22	32754417	32754417	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr22:32754417T>A	ENST00000249007.4	+	1	564	c.359T>A	c.(358-360)aTg>aAg	p.M120K	RFPL3_ENST00000382088.3_Missense_Mutation_p.M91K|RFPL3_ENST00000397468.1_Missense_Mutation_p.M91K	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	120	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AACCCAAGGATGCGGAAGTTC	0.512000													12	105					0	0	0.001855	0	0
BRIX1	55299	broad.mit.edu	37	5	34925008	34925008	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:34925008C>A	ENST00000336767.5	+	9	1083	c.720C>A	c.(718-720)ctC>ctA	p.L240L	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	240	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCTTAAATCTCATAAAGATTT	0.353000													8	42					0.000274275	0.0002938	0.004482	1	0
IQGAP1	8826	broad.mit.edu	37	15	91019960	91019960	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:91019960G>T	ENST00000268182.5	+	24	2974	c.2850G>T	c.(2848-2850)atG>atT	p.M950I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M378I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	950					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATATGATGATGATAAATAAAC	0.358000													47	107					7.88023e-25	1.14754e-24	0.003610	1	0
NUP210P1	255330	broad.mit.edu	37	3	126386090	126386090	+	RNA	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:126386090C>G	ENST00000357061.3	+	0	542					NR_034158.1																						GATCACCAACCACCAGAACCC	0.582000													4	24					0	0	0.000602	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806182	97806182	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:97806182C>A	ENST00000358642.2	+	1	166	c.166C>A	c.(166-168)Cat>Aat	p.H56N		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GAACGACCCCCATCTTCATAT	0.443000													29	176					5.45727e-16	7.63052e-16	0.008361	1	0
HTR3B	9177	broad.mit.edu	37	11	113802135	113802135	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:113802135T>G	ENST00000260191.2	+	3	500	c.243T>G	c.(241-243)agT>agG	p.S81R	HTR3B_ENST00000537778.1_Missense_Mutation_p.S70R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	81					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TAAAGACAAGTGTATGGTACC	0.318000													5	33					0	0	0.003080	0	0
PI4KA	5297	broad.mit.edu	37	22	21096549	21096549	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr22:21096549C>A	ENST00000255882.6	-	32	3794	c.3708G>T	c.(3706-3708)tgG>tgT	p.W1236C	PI4KA_ENST00000572273.1_Missense_Mutation_p.W1178C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1178					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGCCAGCAGCCACTCCCAGC	0.607000											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	113					5.35047e-06	6.08183e-06	0.003330	1	0
SPACA3	124912	broad.mit.edu	37	17	31322657	31322657	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:31322657C>T	ENST00000580599.1	+	3	467	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	SPACA3_ENST00000269053.3_Missense_Mutation_p.L89F|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	89					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TGAGGCCAAGCTCTACGGTCG	0.617000													9	45					0	0	0.004482	0	0
INO80D	54891	broad.mit.edu	37	2	206872020	206872020	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:206872020C>T	ENST00000403263.1	-	10	2310	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	636					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAAAAAAATCAAAATCTTGT	0.343000													8	44					0	0	0.003080	0	0
OR51V1	283111	broad.mit.edu	37	11	5221714	5221714	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:5221714A>G	ENST00000321255.1	-	1	216	c.217T>C	c.(217-219)Tcc>Ccc	p.S73P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAGCATGGACAGGAAGTAA	0.527000													8	45					0	0	0.004482	0	0
NCOA2	10499	broad.mit.edu	37	8	71036930	71036930	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:71036930C>T	ENST00000452400.2	-	20	4268	c.4087G>A	c.(4087-4089)Gga>Aga	p.G1363R	NCOA2_ENST00000267974.4_Missense_Mutation_p.G451R	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1363					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TACCTGTTTCCGCCCATGTTC	0.547000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								3	36					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100682186	100682186	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:100682186C>G	ENST00000306151.4	+	3	7553	c.7489C>G	c.(7489-7491)Cct>Gct	p.P2497A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2497	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.517000													64	351					0	0	0.003610	0	0
OR10C1	442194	broad.mit.edu	37	6	29408444	29408444	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:29408444G>A	ENST00000444197.2	+	1	1362	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCTCCTACGGGCGTATCCT	0.582000													37	158					0	0	0.004289	0	0
CGN	57530	broad.mit.edu	37	1	151502465	151502465	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:151502465G>T	ENST00000271636.7	+	12	2320	c.2187G>T	c.(2185-2187)caG>caT	p.Q729H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	723	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGACCCAGGAGGAAAATG	0.642000													27	74					3.6726e-16	5.15797e-16	0.003954	1	0
CSMD3	114788	broad.mit.edu	37	8	113316984	113316984	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:113316984A>G	ENST00000297405.5	-	52	8476	c.8232T>C	c.(8230-8232)acT>acC	p.T2744T	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Silent_p.T2674T|CSMD3_ENST00000343508.3_Silent_p.T2704T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2744	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACTCCAAGTACCATTAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	75					0	0	0.002450	0	0
ZNF236	7776	broad.mit.edu	37	18	74649240	74649240	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:74649240G>C	ENST00000253159.8	+	26	4915	c.4717G>C	c.(4717-4719)Gat>Cat	p.D1573H	ZNF236_ENST00000320610.9_Missense_Mutation_p.D1575H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1573					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACGCTGGCCGATACTCAGGG	0.557000													9	12					0	0	0.004482	0	0
HHAT	55733	broad.mit.edu	37	1	210637922	210637922	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:210637922C>G	ENST00000367010.1	+	8	1157	c.930C>G	c.(928-930)ctC>ctG	p.L310L	HHAT_ENST00000413764.2_Silent_p.L310L|HHAT_ENST00000391905.3_Silent_p.L310L|HHAT_ENST00000545781.1_Silent_p.L247L|HHAT_ENST00000308852.6_Silent_p.L265L|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Silent_p.L173L|HHAT_ENST00000545154.1_Silent_p.L311L|HHAT_ENST00000537898.1_Silent_p.L245L|HHAT_ENST00000261458.3_Silent_p.L310L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	310					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGCTCTGCTCATGCGCCTGG	0.577000													17	100					0	0	0.004990	0	0
NTSR2	23620	broad.mit.edu	37	2	11802178	11802178	+	Silent	SNP	G	G	T	rs138433349	by1000genomes	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:11802178G>T	ENST00000306928.5	-	2	847	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	271					sensory perception	integral to plasma membrane		p.T271T(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCTGGATAAAGGTCTTCTTCC	0.607000													15	133					7.93312e-07	9.3192e-07	0.002450	1	0
TMEM202	338949	broad.mit.edu	37	15	72691225	72691225	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:72691225T>C	ENST00000341689.3	+	2	367	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	105						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGAGCTGTGCTGGAGCCACAC	0.532000													7	107					0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79028079	79028079	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:79028079C>G	ENST00000446378.2	+	2	3522	c.3491C>G	c.(3490-3492)aCc>aGc	p.T1164S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1164						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGGAAGAAACCAAACCTGCA	0.443000													4	26					0	0	0.009096	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874369	36874369	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:36874369C>T	ENST00000279024.4	-	2	434	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	55										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)				AGGCGCTTGGCAGGGATCAGG	0.587000													5	32					0	0	0.001168	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	73					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668263	176668263	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:176668263A>T	ENST00000367662.3	+	8	3938	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	925					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						CAGCCCTGCGAGCCAAGCTTA	0.547000													25	100					0	0	0.004656	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503752	140503752	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:140503752C>T	ENST00000194152.1	+	1	2172	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		724					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGTCGCTGCTCGGTGCCCG	0.667000													38	165					0	0	0.005524	0	0
CELSR2	1952	broad.mit.edu	37	1	109812092	109812092	+	Missense_Mutation	SNP	G	G	T	rs141489111	byFrequency	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:109812092G>T	ENST00000271332.3	+	21	6920	c.6859G>T	c.(6859-6861)Gtc>Ttc	p.V2287F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2287					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)		GAGCATCAGCGTCCATGATGA	0.612000													8	44					0.00307968	0.00318032	0.003080	1	0
C3AR1	719	broad.mit.edu	37	12	8212518	8212518	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:8212518C>G	ENST00000307637.4	-	2	467	c.264G>C	c.(262-264)tgG>tgC	p.W88C		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	88					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGCCGTAGGGCCACTGTCCCT	0.562000													7	39					0	0	0.004482	0	0
DAO	1610	broad.mit.edu	37	12	109283310	109283310	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:109283310C>A	ENST00000228476.3	+	4	579	c.375C>A	c.(373-375)ttC>ttA	p.F125L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	125					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TGGATATGTTCCCAGATTACG	0.557000													7	55					1.76689e-08	2.17252e-08	0.006214	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530653	84530653	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:84530653C>A	ENST00000527857.1	+	0	675					NR_026851.1																						ACCCTCACCACTGAGGGACCC	0.537000													37	130					2.38352e-08	2.89689e-08	0.004289	1	0
AMHR2	269	broad.mit.edu	37	12	53819292	53819292	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:53819292A>G	ENST00000257863.4	+	5	636	c.556A>G	c.(556-558)Agg>Ggg	p.R186G	AMHR2_ENST00000379791.3_Missense_Mutation_p.R186G|AMHR2_ENST00000550311.1_Missense_Mutation_p.R186G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	186					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCAGAGCCAAGGCCAGACTC	0.607000													10	52					0	0	0.006214	0	0
ANKH	56172	broad.mit.edu	37	5	14741987	14741987	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:14741987C>T	ENST00000284268.6	-	8	1290	c.960G>A	c.(958-960)acG>acA	p.T320T	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.T122T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	320					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTGGGCTGCCGTGACTGTGT	0.512000													6	55					0	0	0.001168	0	0
ADAM28	10863	broad.mit.edu	37	8	24199159	24199159	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:24199159G>C	ENST00000265769.4	+	16	1829	c.1719G>C	c.(1717-1719)ttG>ttC	p.L573F	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L320F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	573	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CGGATAATTTGCCCTGGAAAG	0.413000													23	111					0	0	0.003330	0	0
ABCA10	10349	broad.mit.edu	37	17	67190529	67190529	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:67190529C>T	ENST00000269081.4	-	13	2251	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	ABCA10_ENST00000416101.2_Missense_Mutation_p.E448K	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	448	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCTCACCTTCTGTAGAAACA	0.328000													6	73					0	0	0.001168	0	0
PTPRG	5793	broad.mit.edu	37	3	62180801	62180801	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:62180801G>C	ENST00000474889.1	+	10	1661	c.1284G>C	c.(1282-1284)cgG>cgC	p.R428R	PTPRG_ENST00000295874.10_Silent_p.R428R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	428	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTGTCGGAACGACATGC	0.547000													16	81					0	0	0.004007	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097481	73097481	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:73097481G>C	ENST00000395176.2	-	1	302	c.273C>G	c.(271-273)ttC>ttG	p.F91L	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	91	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						AGATGCGCGTGAAGCGCTCGG	0.672000													8	48					0	0	0.003080	0	0
SSPO	23145	broad.mit.edu	37	7	149510833	149510833	+	RNA	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:149510833G>T	ENST00000378016.2	+	0	10118							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCTGACCGGGCAGCGGCAC	0.687000													6	17					0.000157383	0.000172087	0.003080	1	0
BACE1	23621	broad.mit.edu	37	11	117163829	117163829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:117163829C>A	ENST00000313005.6	-	5	1241	c.781G>T	c.(781-783)Gag>Tag	p.E261*	BACE1_ENST00000510630.1_Nonsense_Mutation_p.E136*|BACE1_ENST00000513780.1_Nonsense_Mutation_p.E236*|BACE1_ENST00000445823.2_Nonsense_Mutation_p.E217*|BACE1_ENST00000428381.2_Nonsense_Mutation_p.E192*|BACE1_ENST00000528053.1_Nonsense_Mutation_p.E261*|BACE1_ENST00000392937.6_Nonsense_Mutation_p.E161*	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	261					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGATCACCTCATAATACCAC	0.507000													46	210					6.57855e-14	8.88385e-14	0.009718	1	0
SEMA4A	64218	broad.mit.edu	37	1	156131274	156131274	+	Silent	SNP	A	A	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:156131274A>C	ENST00000368285.3	+	9	1215	c.948A>C	c.(946-948)acA>acC	p.T316T	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Silent_p.T184T|SEMA4A_ENST00000368284.1_Silent_p.T184T|SEMA4A_ENST00000355014.2_Silent_p.T316T|SEMA4A_ENST00000368282.1_Silent_p.T316T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	316	Sema.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1).	axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATTCTCCCACAGCTCCCCACA	0.672000													16	48					0	0	0.004990	0	0
ZNF841	284371	broad.mit.edu	37	19	52569554	52569554	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:52569554T>A	ENST00000389534.4	-	7	2040	c.1581A>T	c.(1579-1581)ttA>ttT	p.L527F	ZNF841_ENST00000426391.2_Missense_Mutation_p.L411F|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.L527F	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTACAGTTAGTAATGAGCCCC	0.393000													9	16					0	0	0.004482	0	0
C7orf31	136895	broad.mit.edu	37	7	25208070	25208070	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:25208070C>A	ENST00000409280.1	-	3	457	c.149G>T	c.(148-150)aGg>aTg	p.R50M	C7orf31_ENST00000283905.3_Missense_Mutation_p.R50M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	50										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AAGTGACTCCCTTAATTCCTG	0.433000													14	69					1.99824e-07	2.3828e-07	0.004990	1	0
MIR31HG	554202	broad.mit.edu	37	9	21512108	21512108	+	RNA	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:21512108C>T	ENST00000304425.3	-	0	181					NR_027054.1																						TGGCTGCTGTCAGACAGGAAA	0.502000													21	69					0	0	0.003954	0	0
MAST4	375449	broad.mit.edu	37	5	66405958	66405958	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:66405958A>G	ENST00000404260.3	+	11	1706	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	MAST4_ENST00000403625.2_Silent_p.A463A|MAST4_ENST00000403666.1_Silent_p.A274A|MAST4_ENST00000490016.2_Silent_p.A274A|MAST4_ENST00000405643.1_Silent_p.A284A|MAST4_ENST00000261569.7_Silent_p.A269A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	466						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAGAATTGGCATTTATTAAAC	0.383000													5	79					0	0	0.001168	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696235	10696235	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:10696235G>T	ENST00000302079.6	-	43	6687	c.6688C>A	c.(6688-6690)Ccg>Acg	p.P2230T	PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2230T|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P187T|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2255T|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P85T			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2230						integral to membrane	ion channel activity										AACGGCCCCGGGACCTGGTCC	0.527000													6	40					0.00116845	0.00122261	0.001168	1	0
ZNF804B	219578	broad.mit.edu	37	7	88389326	88389326	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:88389326C>G	ENST00000333190.4	+	1	645	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	12						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGAGACATCTCAGCAATGGGC	0.592000										HNSCC(36;0.09)			11	72					0	0	0.008291	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638476	56638476	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:56638476C>A	ENST00000267116.7	-	24	2803	c.2682G>T	c.(2680-2682)gcG>gcT	p.A894A	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	894							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCGTCATGAGCGCAGTGCGGC	0.642000													6	54					3.59834e-05	3.98973e-05	0.001168	1	0
KIAA0368	23392	broad.mit.edu	37	9	114128858	114128858	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:114128858G>C	ENST00000259335.4	-	48	5696	c.5697C>G	c.(5695-5697)ctC>ctG	p.L1899L	KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000338205.5_Silent_p.L1721L|KIAA0368_ENST00000374378.3_Intron	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCCACGTGCTGAGTTTTAGCC	0.448000													6	24					0	0	0.001984	0	0
PKN1	5585	broad.mit.edu	37	19	14581019	14581019	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:14581019G>A	ENST00000242783.6	+	19	2503	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	PKN1_ENST00000342216.4_Missense_Mutation_p.E786K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	780	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGACCCCGGAGTTCCTGGC	0.632000													11	36					0	0	0.001368	0	0
HGF	3082	broad.mit.edu	37	7	81335605	81335605	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:81335605G>C	ENST00000222390.5	-	15	1981	c.1755C>G	c.(1753-1755)gcC>gcG	p.A585A	HGF_ENST00000457544.2_Silent_p.A580A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	585	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAACTAACCTGGCAAGCTTCA	0.418000													11	48					0	0	0.001368	0	0
SGCG	6445	broad.mit.edu	37	13	23808796	23808796	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr13:23808796A>C	ENST00000218867.3	+	3	366	c.242A>C	c.(241-243)gAa>gCa	p.E81A	SGCG_ENST00000545013.1_Missense_Mutation_p.E81A|SGCG_ENST00000537476.1_Missense_Mutation_p.E81A	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	81					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTGCGCTTGGAAGGGGAATCA	0.333000													15	82					0	0	0.006122	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562286	52562286	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:52562286C>T	ENST00000307076.4	-	6	973	c.573G>A	c.(571-573)ccG>ccA	p.P191P	NT5DC2_ENST00000459839.1_Silent_p.P203P|NT5DC2_ENST00000307092.4_Silent_p.P132P|NT5DC2_ENST00000422318.2_Silent_p.P228P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	191							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGCCATCTCCGGTAGCGAGA	0.572000													11	50					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237753196	237753196	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:237753196G>A	ENST00000366574.2	+	30	4019	c.3702G>A	c.(3700-3702)gaG>gaA	p.E1234E	RYR2_ENST00000360064.6_Silent_p.E1232E|RYR2_ENST00000542537.1_Silent_p.E1218E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1234	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)			GCTTACAAGAGGGCTATGAAC	0.438000													6	46					0	0	0.001168	0	0
FOXM1	2305	broad.mit.edu	37	12	2968621	2968621	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:2968621G>A	ENST00000342628.2	-	10	1702	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.P477L|FOXM1_ENST00000359843.3_Missense_Mutation_p.P492L	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	492					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAAAGATGGGGCCGGGGA	0.567000													12	86					0	0	0.010729	0	0
FAM47B	170062	broad.mit.edu	37	X	34962538	34962538	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chrX:34962538G>T	ENST00000329357.5	+	1	1626	c.1590G>T	c.(1588-1590)agG>agT	p.R530S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	530										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTGGGACAGGAGACGCCGGG	0.498000													20	59					1.01871e-10	1.33022e-10	0.008871	1	0
UBE2O	63893	broad.mit.edu	37	17	74398767	74398767	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:74398767C>A	ENST00000319380.7	-	4	666	c.602G>T	c.(601-603)gGg>gTg	p.G201V		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	201							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AATGTAGTCCCCATACATGAA	0.552000													7	105					0.00307968	0.00318032	0.003080	1	0
NTRK3	4916	broad.mit.edu	37	15	88679220	88679220	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:88679220C>G	ENST00000394480.1	-	9	1138	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L	NTRK3_ENST00000360948.2_Missense_Mutation_p.V273L|NTRK3_ENST00000357724.2_Missense_Mutation_p.V273L|NTRK3_ENST00000557856.1_Missense_Mutation_p.V273L|NTRK3_ENST00000355254.2_Missense_Mutation_p.V273L|NTRK3_ENST00000317501.3_Missense_Mutation_p.V273L|NTRK3_ENST00000558676.1_Missense_Mutation_p.V273L|NTRK3_ENST00000542733.2_Missense_Mutation_p.V175L|NTRK3_ENST00000540489.2_Missense_Mutation_p.V273L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	273	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCACTCGTCACATTCACCAGC	0.468000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			8	94					0	0	0.003080	0	0
PATL1	219988	broad.mit.edu	37	11	59421465	59421465	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:59421465T>C	ENST00000300146.9	-	9	1196	c.1112A>G	c.(1111-1113)cAg>cGg	p.Q371R		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	371	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CCTTCTATTCTGTTGCTGTCT	0.393000													12	74					0	0	0.010729	0	0
RSPO1	284654	broad.mit.edu	37	1	38078474	38078474	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:38078474G>T	ENST00000356545.2	-	8	1532	c.745C>A	c.(745-747)Cag>Aag	p.Q249K	RSPO1_ENST00000373059.1_Missense_Mutation_p.Q222K|RSPO1_ENST00000401068.1_Missense_Mutation_p.Q249K|RSPO1_ENST00000401069.1_Missense_Mutation_p.Q249K|RSPO1_ENST00000401070.1_Missense_Mutation_p.Q186K|RSPO1_ENST00000401071.2_Missense_Mutation_p.Q186K	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	249					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTGCTGCTGCTGCTGTTGC	0.637000													22	102					1.96895e-08	2.40227e-08	0.002780	1	0
SNX2	6643	broad.mit.edu	37	5	122130962	122130962	+	Splice_Site	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:122130962C>G	ENST00000379516.2	+	2	218	c.108_splice	c.e2-1	p.S37_splice	SNX2_ENST00000514949.1_5'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	37					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTTTAACAGTCAAGTCCATCA	0.373000													11	63					0	0	0.010729	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													7	33					0	0	0.001984	0	0
UTRN	7402	broad.mit.edu	37	6	145021366	145021366	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:145021366A>G	ENST00000367545.3	+	52	7796	c.7796A>G	c.(7795-7797)tAt>tGt	p.Y2599C	UTRN_ENST00000367526.4_Missense_Mutation_p.Y154C	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2599					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGCTCCAGTATGACCATTGT	0.353000													8	56					0	0	0.006214	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326352	112326352	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:112326352G>A	ENST00000550735.2	+	11	1786	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.D344N	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	344					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						GAGAATCCAGGATCTGAAAGT	0.478000													16	80					0	0	0.004990	0	0
FEZF1	389549	broad.mit.edu	37	7	121942156	121942156	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:121942156C>T	ENST00000442488.2	-	4	1390	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	FEZF1_ENST00000427185.2_Silent_p.P391P|FEZF1_ENST00000331178.4_Silent_p.P437P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	441	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						gcgggggcggcggTTCAGTGC	0.706000													6	45					0	0	0.001168	0	0
ALPK1	80216	broad.mit.edu	37	4	113356346	113356346	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:113356346C>T	ENST00000458497.1	+	12	3356	c.3077C>T	c.(3076-3078)aCg>aTg	p.T1026M	ALPK1_ENST00000177648.9_Missense_Mutation_p.T1026M|ALPK1_ENST00000504176.2_Missense_Mutation_p.T948M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1026	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAACTGTGGACGGCCCAGGAA	0.343000													28	171					0	0	0.009535	0	0
C12orf76	400073	broad.mit.edu	37	12	110488903	110488903	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:110488903C>T	ENST00000548191.1	-	2	465	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	C12orf76_ENST00000309050.5_Intron|C12orf76_ENST00000548936.1_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						GTCCTTTTCACCTTGCTGTGC	0.473000													6	39					0	0	0.001168	0	0
ZIC4	84107	broad.mit.edu	37	3	147108850	147108850	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:147108850G>A	ENST00000383075.3	-	4	1384	c.872C>T	c.(871-873)tCg>tTg	p.S291L	ZIC4_ENST00000491672.1_Missense_Mutation_p.S85L|ZIC4_ENST00000425731.3_Missense_Mutation_p.S329L|ZIC4_ENST00000525172.2_Missense_Mutation_p.S341L|ZIC4_ENST00000484399.1_Missense_Mutation_p.S291L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S291L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	291						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGCGGCGGCGAGCGCCCGTG	0.672000													13	47					0	0	0.003163	0	0
ZNF90	7643	broad.mit.edu	37	19	20228856	20228856	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:20228856A>G	ENST00000418063.2	+	4	605	c.493A>G	c.(493-495)Ata>Gta	p.I165V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	165						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CAGACATAAGATAAGAGATAC	0.343000													3	11					0	0	0.004672	0	0
CLCA1	1179	broad.mit.edu	37	1	86947985	86947985	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:86947985T>A	ENST00000234701.3	+	6	1006	c.655T>A	c.(655-657)Tat>Aat	p.Y219N	CLCA1_ENST00000394711.1_Missense_Mutation_p.Y219N			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	219					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AACAGGACTCTATGAAAAAGG	0.413000													18	57					0	0	0.004990	0	0
CHRD	8646	broad.mit.edu	37	3	184106522	184106522	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:184106522G>T	ENST00000204604.1	+	21	2948	c.2702G>T	c.(2701-2703)aGa>aTa	p.R901I	CHRD_ENST00000348986.3_Missense_Mutation_p.R861I|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.R443I|CHRD_ENST00000450923.1_Missense_Mutation_p.R901I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	901	VWFC 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCACCTGCAGATGTGGGGTA	0.612000													17	71					5.3912e-06	6.10617e-06	0.006122	1	0
TMEM202	338949	broad.mit.edu	37	15	72691226	72691226	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:72691226G>T	ENST00000341689.3	+	2	368	c.314G>T	c.(313-315)tGg>tTg	p.W105L	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	105						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGCTGTGCTGGAGCCACACA	0.532000													7	107					0.000274275	0.0002938	0.004482	1	0
SNUPN	10073	broad.mit.edu	37	15	75909787	75909787	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:75909787C>T	ENST00000564644.1	-	4	843	c.265G>A	c.(265-267)Gac>Aac	p.D89N	SNUPN_ENST00000567134.1_Missense_Mutation_p.D89N|SNUPN_ENST00000564675.1_Missense_Mutation_p.D89N|SNUPN_ENST00000371091.5_Missense_Mutation_p.D131N|SNUPN_ENST00000308588.5_Missense_Mutation_p.D89N			O95149	SPN1_HUMAN	snurportin 1	89	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TTGACAGTGTCAATGTCCATT	0.428000													23	108					0	0	0.003330	0	0
OR52N1	79473	broad.mit.edu	37	11	5809516	5809516	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:5809516G>T	ENST00000317078.1	-	1	530	c.531C>A	c.(529-531)ccC>ccA	p.P177P	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P177P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGTAGGTGTGGGGTATGACGT	0.498000													9	30					5.4927e-09	6.91512e-09	0.004482	1	0
SYNE1	23345	broad.mit.edu	37	6	152765682	152765682	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:152765682C>G	ENST00000367255.5	-	30	4302	c.3701G>C	c.(3700-3702)tGt>tCt	p.C1234S	SYNE1_ENST00000265368.4_Missense_Mutation_p.C1234S|SYNE1_ENST00000341594.5_Missense_Mutation_p.C1300S|SYNE1_ENST00000423061.1_Missense_Mutation_p.C1241S|SYNE1_ENST00000367248.3_Missense_Mutation_p.C1224S|SYNE1_ENST00000413186.2_Missense_Mutation_p.C1234S|SYNE1_ENST00000448038.1_Missense_Mutation_p.C1241S|SYNE1_ENST00000367253.4_Missense_Mutation_p.C1234S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1234					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTACTGGACACAGTCCCCAAA	0.313000										HNSCC(10;0.0054)			6	39					0	0	0.001168	0	0
KRT14	3861	broad.mit.edu	37	17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562000													22	129					0	0	0.003954	0	0
ITGAL	3683	broad.mit.edu	37	16	30500676	30500676	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr16:30500676A>G	ENST00000356798.6	+	11	1362	c.1182A>G	c.(1180-1182)ccA>ccG	p.P394P	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P311P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	394					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)	GGAATGAACCATTGACACCAG	0.537000													14	59					0	0	0.003163	0	0
COL12A1	1303	broad.mit.edu	37	6	75892912	75892912	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:75892912G>C	ENST00000322507.8	-	10	2054	c.1745C>G	c.(1744-1746)tCa>tGa	p.S582*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S582*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.S582*|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	582	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCAATTCTGAGCGAACGGC	0.438000													14	66					0	0	0.001855	0	0
ADARB1	104	broad.mit.edu	37	21	46624477	46624477	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr21:46624477G>T	ENST00000539173.1	+	10	2128	c.1693G>T	c.(1693-1695)Gtg>Ttg	p.V565L	ADARB1_ENST00000360697.3_Missense_Mutation_p.V565L|ADARB1_ENST00000348831.4_Missense_Mutation_p.V525L|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.V565L	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	565	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.V565M(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGCTGGAACGTGGTGGGCAT	0.592000													7	58					2.0095e-06	2.32601e-06	0.001984	1	0
OR2M5	127059	broad.mit.edu	37	1	248309331	248309331	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:248309331C>A	ENST00000366476.1	+	1	882	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCCTCCGCAACAAGGAGGTGA	0.488000													70	58					6.98806e-16	9.72787e-16	0.003610	1	0
ATP1A4	480	broad.mit.edu	37	1	160141528	160141528	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:160141528G>T	ENST00000368081.4	+	12	2306	c.1835G>T	c.(1834-1836)tGt>tTt	p.C612F	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	612					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGAGCAAGTGTCGCAGTGCA	0.498000													42	112					2.45108e-15	3.38227e-15	0.008740	1	0
ZNF675	171392	broad.mit.edu	37	19	23836866	23836866	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:23836866C>A	ENST00000359788.4	-	4	1037	c.869G>T	c.(868-870)gGc>gTc	p.G290V	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	290					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAGGCTTTGCCACATTCTTC	0.378000													8	46					1.06961e-07	1.29007e-07	0.003080	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	73					0	0	0.001984	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596251	3596251	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:3596251C>A	ENST00000315212.3	-	6	983	c.628G>T	c.(628-630)Gac>Tac	p.D210Y		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	210	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AACATACTGTCTGTATACAGA	0.383000													7	57					0.000274275	0.0002938	0.004482	1	0
HSF5	124535	broad.mit.edu	37	17	56565158	56565158	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:56565158C>T	ENST00000323777.3	-	1	587	c.478G>A	c.(478-480)Gcc>Acc	p.A160T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGGCGGAGGCCGAGGTGATG	0.776000													3	3					0	0	0.004672	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764556	22764556	+	RNA	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr22:22764556C>T	ENST00000390299.2	+	0	349																											CACTGGGCTCCAGGCTGAGGA	0.587000													23	125					0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126373554	126373554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:126373554G>T	ENST00000394329.3	+	9	11396	c.11383G>T	c.(11383-11385)Gga>Tga	p.G3795*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G2093*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3795					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G3795R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGGCAGAGTGGAGTAAAGGT	0.478000													11	50					2.27111e-07	2.69801e-07	0.001368	1	0
EPB42	2038	broad.mit.edu	37	15	43494131	43494131	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:43494131G>A	ENST00000300215.3	-	12	2371	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V	EPB42_ENST00000441366.2_Silent_p.V608V|EPB42_ENST00000540029.1_Silent_p.V530V|EPB42_ENST00000563128.1_5'UTR			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	608					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCTGGAGGCTGACTGAGGCTG	0.557000													11	84					0	0	0.010729	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20517336	20517336	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:20517336T>A	ENST00000202677.6	-	25	3520	c.3378A>T	c.(3376-3378)gaA>gaT	p.E1126D		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1126					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCTCATTTACTTCTGGCACTG	0.428000													4	25					0	0	0.009096	0	0
CAND2	23066	broad.mit.edu	37	3	12858985	12858985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:12858985C>T	ENST00000456430.2	+	10	2595	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.Q759*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	852					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						TGAGGTGGGTCAGGTGGCTGG	0.662000													5	32					0	0	0.001168	0	0
TGM6	343641	broad.mit.edu	37	20	2384323	2384323	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:2384323C>A	ENST00000202625.2	+	9	1251	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	TGM6_ENST00000381423.1_Missense_Mutation_p.A397D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	397					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGGTCAACGCCGACTACATC	0.617000													12	59					7.03913e-09	8.79195e-09	0.001368	1	0
FAM47B	170062	broad.mit.edu	37	X	34962537	34962537	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chrX:34962537G>C	ENST00000329357.5	+	1	1625	c.1589G>C	c.(1588-1590)aGg>aCg	p.R530T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	530										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TACTGGGACAGGAGACGCCGG	0.493000													19	59					0	0	0.007413	0	0
STRN3	29966	broad.mit.edu	37	14	31382833	31382833	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr14:31382833C>A	ENST00000355683.5	-	8	1234	c.1019G>T	c.(1018-1020)gGc>gTc	p.G340V	STRN3_ENST00000366206.2_Intron|STRN3_ENST00000357479.5_Missense_Mutation_p.G424V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	337					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAATGACTTGCCTCCTCCAGA	0.378000													23	125					4.72057e-08	5.71533e-08	0.003954	1	0
EMR2	30817	broad.mit.edu	37	19	14866636	14866636	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:14866636C>G	ENST00000315576.3	-	13	1697	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	EMR2_ENST00000353005.1_Missense_Mutation_p.E274Q|EMR2_ENST00000346057.1_Missense_Mutation_p.E367Q|EMR2_ENST00000594076.1_Missense_Mutation_p.E323Q|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Missense_Mutation_p.E323Q|EMR2_ENST00000596991.2_Missense_Mutation_p.E405Q|EMR2_ENST00000392967.2_Missense_Mutation_p.E405Q|EMR2_ENST00000594294.1_Missense_Mutation_p.E367Q|EMR2_ENST00000601345.1_Missense_Mutation_p.E405Q|EMR2_ENST00000595839.1_Missense_Mutation_p.E274Q|EMR2_ENST00000392965.3_Missense_Mutation_p.E416Q	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	416					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGAGGGGCCTCAGCCAGCAAC	0.582000													4	33					0	0	0.009096	0	0
MUC4	4585	broad.mit.edu	37	3	195517616	195517616	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:195517616C>T	ENST00000463781.3	-	2	1294	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E279K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	284					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGATGTCTCCCCTGGGTTT	0.468000													8	61					0	0	0.003080	0	0
OBSL1	23363	broad.mit.edu	37	2	220418344	220418344	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:220418344C>G	ENST00000404537.1	-	16	4997	c.4941G>C	c.(4939-4941)acG>acC	p.T1647T	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.T1555T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1647	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGCACTCGAACGTAGCTGTGT	0.597000													4	22					0	0	0.000602	0	0
CARD6	84674	broad.mit.edu	37	5	40853995	40853995	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:40853995C>T	ENST00000254691.5	+	3	2760	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	854					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CACTCCTATTCCCTGGATTCA	0.502000													27	310					0	0	0.004656	0	0
EXTL3	2137	broad.mit.edu	37	8	28575146	28575146	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:28575146G>A	ENST00000220562.4	+	3	2472	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.D140N	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	524						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTCCACTGCTGACAGTATTTT	0.557000													12	51					0	0	0.010729	0	0
CD97	976	broad.mit.edu	37	19	14513644	14513644	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:14513644T>A	ENST00000242786.5	+	12	1499	c.1419T>A	c.(1417-1419)gaT>gaA	p.D473E	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.D424E|CD97_ENST00000358600.3_Missense_Mutation_p.D380E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	473					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						AGTCCTCCGATGGGGAGGCGG	0.577000													16	56					0	0	0.012319	0	0
SOGA1	140710	broad.mit.edu	37	20	35467745	35467745	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:35467745G>C	ENST00000237536.4	-	2	1128	c.787C>G	c.(787-789)Cag>Gag	p.Q263E	SOGA1_ENST00000357779.3_Missense_Mutation_p.Q25E|SOGA1_ENST00000279034.5_Missense_Mutation_p.Q25E	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	25										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTGCTGGCCTGGTCCAGCTGC	0.652000													12	43					0	0	0.001368	0	0
MMP7	4316	broad.mit.edu	37	11	102395737	102395737	+	Silent	SNP	C	C	T	rs149122882		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:102395737C>T	ENST00000260227.4	-	4	595	c.543G>A	c.(541-543)gcG>gcA	p.A181A		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	181					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CTGTCCCAGGCGCAAAGGCAT	0.498000													6	43					0	0	0.001168	0	0
BEND4	389206	broad.mit.edu	37	4	42145643	42145643	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:42145643G>C	ENST00000502486.1	-	3	1435	c.856C>G	c.(856-858)Cct>Gct	p.P286A	BEND4_ENST00000504360.1_Missense_Mutation_p.P282A	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	286										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GTATGCACAGGAGAGGTTGAC	0.542000													3	14					0	0	0.004672	0	0
KCND3	3752	broad.mit.edu	37	1	112524925	112524925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:112524925C>A	ENST00000369697.1	-	1	493	c.424G>T	c.(424-426)Gag>Tag	p.E142*	KCND3_ENST00000302127.4_Nonsense_Mutation_p.E142*|KCND3_ENST00000315987.2_Nonsense_Mutation_p.E142*			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	142						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGGCGTTCTCCCTCTTGCGG	0.617000													11	44					0.000673444	0.000709361	0.008291	1	0
KIFC2	90990	broad.mit.edu	37	8	145698021	145698021	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:145698021C>G	ENST00000301332.2	+	16	2170	c.1793C>G	c.(1792-1794)tCc>tGc	p.S598C	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	598	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CAGCGCAGCTCCCGCTCGCAT	0.721000													6	23					0	0	0.001984	0	0
UBN1	29855	broad.mit.edu	37	16	4920857	4920857	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr16:4920857G>C	ENST00000396658.4	+	10	2146	c.1443G>C	c.(1441-1443)gaG>gaC	p.E481D	UBN1_ENST00000545171.1_Missense_Mutation_p.E481D|UBN1_ENST00000590769.1_Missense_Mutation_p.E481D|UBN1_ENST00000262376.6_Missense_Mutation_p.E481D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	481					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCTGGAAGAGGAGAAAGACA	0.537000													6	20					0	0	0.001168	0	0
EPX	8288	broad.mit.edu	37	17	56277677	56277677	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:56277677G>A	ENST00000225371.5	+	10	1739	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	543					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCGGGACCGGCTGTTTCGGC	0.642000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	75					0	0	0.001368	0	0
GPC6	10082	broad.mit.edu	37	13	94680120	94680120	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr13:94680120C>G	ENST00000377047.4	+	4	1464	c.849C>G	c.(847-849)gaC>gaG	p.D283E		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	283						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATCAGGCTGACCTCGACACAG	0.507000													11	61					0	0	0.010729	0	0
FAM13A	10144	broad.mit.edu	37	4	89649738	89649738	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:89649738C>A	ENST00000264344.5	-	24	3225	c.3018G>T	c.(3016-3018)ctG>ctT	p.L1006L	FAM13A_ENST00000508369.1_Silent_p.L680L|FAM13A_ENST00000503556.1_Silent_p.L666L|FAM13A_ENST00000513837.1_Silent_p.L652L|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000511976.1_Silent_p.L592L|FAM13A_ENST00000395002.2_Silent_p.L652L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	1006					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCAGGAGCCTCAGTTTCGCCT	0.493000													11	67					3.07112e-06	3.50351e-06	0.010729	1	0
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:73046870G>A	ENST00000261180.4	+	17	2879	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353000													8	41					0	0	0.003080	0	0
BTBD16	118663	broad.mit.edu	37	10	124045739	124045739	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:124045739A>T	ENST00000368994.2	+	5	615	c.364A>T	c.(364-366)Agg>Tgg	p.R122W	BTBD16_ENST00000260723.4_Missense_Mutation_p.R121W			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	121										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACACCCCCTGAGGGAGCTGGA	0.602000													39	89					0	0	0.006999	0	0
UNC13D	201294	broad.mit.edu	37	17	73831963	73831963	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:73831963G>A	ENST00000207549.4	-	18	1948	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	UNC13D_ENST00000412096.2_Silent_p.S523S	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	523	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAAGCCATGGAGAAGAGGT	0.622000									Familial Hemophagocytic Lymphohistiocytosis				17	112					0	0	0.007413	0	0
WDFY3	23001	broad.mit.edu	37	4	85731115	85731115	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:85731115G>A	ENST00000322366.6	-	14	2677	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDFY3_ENST00000295888.4_Missense_Mutation_p.S757L|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	757						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGTGACACTGATTCTATTGA	0.398000													17	114					0	0	0.004990	0	0
DIP2B	57609	broad.mit.edu	37	12	51121554	51121554	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:51121554G>C	ENST00000301180.5	+	29	3503	c.3469G>C	c.(3469-3471)Gat>Cat	p.D1157H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1157						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCATATCTTGATTTTAGTGT	0.443000													29	134					0	0	0.006320	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142144041	142144041	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:142144041C>A	ENST00000390373.2	-	0	43																											CCCACCTGCCCACAGGAGAGA	0.607000													9	172					0.000274275	0.0002938	0.004482	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767729	77767729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:77767729G>T	ENST00000521891.2	+	10	9020	c.8572G>T	c.(8572-8574)Gag>Tag	p.E2858*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E2813*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E2832*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E2813*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2813						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)			ACCTACCACGGAGGTCTGCGA	0.473000										HNSCC(33;0.089)			4	40					0.00024832	0.000269653	0.009096	1	0
MAPK4	5596	broad.mit.edu	37	18	48252510	48252510	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:48252510G>C	ENST00000400384.2	+	5	2068	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	MAPK4_ENST00000540640.1_Missense_Mutation_p.Q133H|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	344					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCGCTAACCAGAGCCAGCTGT	0.577000													5	39					0	0	0.000602	0	0
IQGAP1	8826	broad.mit.edu	37	15	91019961	91019961	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:91019961A>T	ENST00000268182.5	+	24	2975	c.2851A>T	c.(2851-2853)Ata>Tta	p.I951L	IQGAP1_ENST00000560738.1_Missense_Mutation_p.I379L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	951					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TATGATGATGATAAATAAACA	0.363000													45	108					0	0	0.010771	0	0
RGS12	6002	broad.mit.edu	37	4	3319634	3319634	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:3319634C>A	ENST00000336727.3	+	2	2641	c.1737C>A	c.(1735-1737)atC>atA	p.I579I	RGS12_ENST00000543385.1_Silent_p.I579I|RGS12_ENST00000382788.3_Silent_p.I579I|RGS12_ENST00000344733.5_Silent_p.I579I	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	579						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAGCAAGATCCCCGCAGACC	0.612000													11	87					0.000673444	0.000709361	0.008291	1	0
SH2D3C	10044	broad.mit.edu	37	9	130536702	130536702	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:130536702G>C	ENST00000314830.8	-	2	195	c.82C>G	c.(82-84)Cgg>Ggg	p.R28G		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	28					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGAAGGACCGAGGGAGGTTG	0.507000													7	21					0	0	0.001984	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435881	7435881	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:7435881G>T	ENST00000319098.4	-	1	819	c.726C>A	c.(724-726)ctC>ctA	p.L242L	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	242	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CCTGCGGGGGGAGAAGCCTCA	0.617000													7	53					2.52707e-12	3.34123e-12	0.006214	1	0
GPR6	2830	broad.mit.edu	37	6	110301371	110301371	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:110301371G>T	ENST00000414000.2	+	3	1340	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V	GPR6_ENST00000275169.3_Silent_p.V352V			P46095	GPR6_HUMAN	G protein-coupled receptor 6	352						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGTCCAAAGTGCCCTTTCGTT	0.587000													17	103					8.34094e-07	9.76198e-07	0.008871	1	0
CFTR	1080	broad.mit.edu	37	7	117251762	117251762	+	Missense_Mutation	SNP	G	G	C	rs150020260		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:117251762G>C	ENST00000003084.6	+	20	3399	c.3267G>C	c.(3265-3267)tgG>tgC	p.W1089C	CFTR_ENST00000454343.1_Missense_Mutation_p.W1028C|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1089	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGCCAACTGGTTCTTGTACC	0.403000									Cystic Fibrosis				4	40					0	0	0.000602	0	0
TNRC18	84629	broad.mit.edu	37	7	5399057	5399057	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:5399057T>C	ENST00000399537.4	-	15	5153	c.4805A>G	c.(4804-4806)cAt>cGt	p.H1602R	TNRC18_ENST00000430969.1_Missense_Mutation_p.H1602R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1602							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGAGGCCTCATGTTCATCCCA	0.537000													27	160					0	0	0.008361	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385580	21385580	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr22:21385580A>G	ENST00000382932.2	-	2	589	c.522T>C	c.(520-522)gcT>gcC	p.A174A	SLC7A4_ENST00000403586.1_Silent_p.A174A	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	174				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGATGATGCCAGCAGCCAGGA	0.597000													3	30					0	0	0.004672	0	0
DENND4C	55667	broad.mit.edu	37	9	19290748	19290748	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:19290748C>T	ENST00000602925.1	+	5	1091	c.675C>T	c.(673-675)ctC>ctT	p.L225L	DENND4C_ENST00000434457.2_Silent_p.L225L|DENND4C_ENST00000307015.9_Intron|DENND4C_ENST00000380432.2_Intron			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	0	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTTCCACTCTCAGAATCAG	0.338000													3	22					0	0	0.004672	0	0
CCDC170	80129	broad.mit.edu	37	6	151936673	151936673	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:151936673G>T	ENST00000367290.5	+	10	1916	c.1827G>T	c.(1825-1827)atG>atT	p.M609I	CCDC170_ENST00000239374.7_Missense_Mutation_p.M602I			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	602																	AAAAGCTCATGTCTGTCAAGT	0.398000													22	80					1.55795e-14	2.13122e-14	0.012319	1	0
ASB17	127247	broad.mit.edu	37	1	76384645	76384645	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:76384645C>G	ENST00000284142.6	-	3	1019	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	294	SOCS box.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGTTAGATTTCTAAATTCAGA	0.328000													10	57					0	0	0.001368	0	0
SPAG7	9552	broad.mit.edu	37	17	4862940	4862940	+	Splice_Site	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:4862940T>A	ENST00000573366.1	-	7	1280		c.e7-2		SPAG7_ENST00000206020.3_Splice_Site|SPAG7_ENST00000575142.1_3'UTR			O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCACGGGCACTAGGGGCAGAG	0.617000													10	78					0	0	0.008291	0	0
KMT2C	58508	broad.mit.edu	37	7	151962215	151962215	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:151962215C>A	ENST00000355193.2	-	8	1310	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q364H					lysine (K)-specific methyltransferase 2C																		CATGATAGTGCTGACCACAAG	0.448000													29	391					1.45844e-13	1.95282e-13	0.002836	1	0
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M|UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627000													8	48					0	0	0.003080	0	0
FSIP2	401024	broad.mit.edu	37	2	186671328	186671328	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:186671328C>T	ENST00000343098.5	+	17	17562	c.17562C>T	c.(17560-17562)ccC>ccT	p.P5854P	FSIP2_ENST00000424728.1_Silent_p.P5765P	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGTGAACCCAGTAAACCAG	0.343000													10	38					0	0	0.008291	0	0
OR8A1	390275	broad.mit.edu	37	11	124440819	124440819	+	Silent	SNP	C	C	A	rs142548119		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:124440819C>A	ENST00000284287.3	+	1	927	c.855C>A	c.(853-855)acC>acA	p.T285T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTCCTTGACCCAGGAGAATG	0.502000													10	62					0.00136819	0.0014269	0.001368	1	0
KRT79	338785	broad.mit.edu	37	12	53218032	53218032	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:53218032G>T	ENST00000330553.5	-	5	1004	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	324	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGGCAATCAGCTCATACTGG	0.602000													18	87					1.78486e-19	2.56371e-19	0.007413	1	0
WWOX	51741	broad.mit.edu	37	16	78466626	78466626	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr16:78466626G>T	ENST00000566780.1	+	8	1399	c.1033G>T	c.(1033-1035)Gcg>Tcg	p.A345S	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345S|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GTTTACCTTGGCGAGGCCTTT	0.532000													21	140					1.96895e-08	2.40227e-08	0.002780	1	0
XKR3	150165	broad.mit.edu	37	22	17280847	17280847	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr22:17280847G>C	ENST00000331428.5	-	3	505	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	135						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATGCTAACTTGAGTCTCTTCC	0.383000													11	92					0	0	0.008291	0	0
SRPK3	26576	broad.mit.edu	37	X	153049584	153049584	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chrX:153049584G>T	ENST00000489426.1	+	16	3630	c.1264G>T	c.(1264-1266)Ggc>Tgc	p.G422C	SRPK3_ENST00000393786.3_Missense_Mutation_p.G321C|SRPK3_ENST00000370101.3_Missense_Mutation_p.G355C|SRPK3_ENST00000370100.1_Missense_Mutation_p.G280C|SRPK3_ENST00000370104.1_Missense_Mutation_p.G354C|SRPK3_ENST00000370108.3_Missense_Mutation_p.G322C			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	355	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCTCCGGCTCCCTCTT	0.697000													4	15					0.00909568	0.00933193	0.009096	1	0
LCP2	3937	broad.mit.edu	37	5	169702356	169702356	+	Splice_Site	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:169702356C>A	ENST00000046794.5	-	5	870		c.e5-1			NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)						immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GACTTGGGGTCTGCAAAGGTA	0.507000													11	41					9.31168e-06	1.04715e-05	0.001855	1	0
PIP4K2A	5305	broad.mit.edu	37	10	22830773	22830773	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:22830773G>A	ENST00000376573.4	-	8	1224	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PIP4K2A_ENST00000545335.1_Silent_p.F273F|PIP4K2A_ENST00000323883.7_Silent_p.F192F	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	332	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGTTCGGATCGAACTCCCCGG	0.542000													13	72					0	0	0.001855	0	0
LY9	4063	broad.mit.edu	37	1	160783652	160783652	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:160783652C>A	ENST00000263285.5	+	3	711	c.681C>A	c.(679-681)ccC>ccA	p.P227P	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.P227P|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.P187P	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	227	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.P227P(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCAGAACCCCGTCAGCCAGA	0.547000													48	228					1.57914e-17	2.24779e-17	0.003610	1	0
DET1	55070	broad.mit.edu	37	15	89056235	89056235	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:89056235T>C	ENST00000564406.1	-	6	1793	c.1633A>G	c.(1633-1635)Agg>Ggg	p.R545G	DET1_ENST00000444300.1_Missense_Mutation_p.R545G|DET1_ENST00000268148.8_Missense_Mutation_p.R534G	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	534						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCATTAGTCCTCTGCACAGAA	0.522000													6	38					0	0	0.001168	0	0
SV2A	9900	broad.mit.edu	37	1	149879673	149879673	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:149879673C>A	ENST00000369146.3	-	9	1955	c.1465G>T	c.(1465-1467)Ggg>Tgg	p.G489W	SV2A_ENST00000369145.1_Missense_Mutation_p.G489W	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	489					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACGCGCTCCCCGGGGAACACT	0.517000													40	145					1.15183e-24	1.66963e-24	0.009718	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68700833	68700833	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:68700833G>T	ENST00000283916.6	-	6	580	c.482C>A	c.(481-483)aCt>aAt	p.T161N	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.T44N|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	161	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGCCTGGTCAGTAAGTGCTAG	0.303000													4	30					0.000602214	0.00063859	0.000602	1	0
MADD	8567	broad.mit.edu	37	11	47311714	47311714	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:47311714G>T	ENST00000342922.4	+	18	3315	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	MADD_ENST00000402799.1_Missense_Mutation_p.K943N|MADD_ENST00000402192.2_Missense_Mutation_p.K986N|MADD_ENST00000395336.3_Missense_Mutation_p.K1006N|MADD_ENST00000395344.3_Missense_Mutation_p.K943N|MADD_ENST00000407859.3_Missense_Mutation_p.K963N|MADD_ENST00000311027.5_Missense_Mutation_p.K1006N|MADD_ENST00000349238.3_Missense_Mutation_p.K1006N|MADD_ENST00000406482.1_Missense_Mutation_p.K943N	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1006					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAGTCGGAAGGTGTACAAGG	0.557000													18	55					1.96292e-10	2.53177e-10	0.010504	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70819872	70819872	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:70819872C>A	ENST00000370944.4	-	1	533	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.G74C	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	74					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GCCGGGGCGCCGGGGGGATTG	0.637000													20	113					6.33239e-15	8.70015e-15	0.010504	1	0
OR4C3	256144	broad.mit.edu	37	11	48346800	48346800	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:48346800C>A	ENST00000319856.4	+	1	329	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTTCTATGGCTCCTAAACTC	0.463000													14	171					1.67942e-08	2.07303e-08	0.006122	1	0
TMC4	147798	broad.mit.edu	37	19	54664630	54664630	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:54664630A>C	ENST00000376591.4	-	13	2107	c.1976T>G	c.(1975-1977)cTt>cGt	p.L659R	TMC4_ENST00000301187.4_Missense_Mutation_p.L653R|TMC4_ENST00000416963.1_Missense_Mutation_p.L241R	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	659						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATCAGCAGAAGGGGCACAGC	0.587000													6	29					0	0	0.001168	0	0
JARID2	3720	broad.mit.edu	37	6	15513508	15513508	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:15513508C>A	ENST00000341776.2	+	16	3549	c.3305C>A	c.(3304-3306)gCt>gAt	p.A1102D	JARID2_ENST00000397311.3_Missense_Mutation_p.A930D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1102					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGTTCGAGGCTGGCCTCCAC	0.642000													5	9					3.59834e-05	3.98973e-05	0.001168	1	0
PLCZ1	89869	broad.mit.edu	37	12	18858129	18858129	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:18858129C>T	ENST00000447925.2	-	7	1098	c.829G>A	c.(829-831)Gat>Aat	p.D277N	PLCZ1_ENST00000541695.1_Missense_Mutation_p.D142N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.D20N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.D279N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.D84N|PLCZ1_ENST00000539875.1_Missense_Mutation_p.D86N	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	279	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCAGGAAAATCATCAAGCATA	0.393000													16	81					0	0	0.004007	0	0
HTR3B	9177	broad.mit.edu	37	11	113803761	113803761	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:113803761C>T	ENST00000260191.2	+	6	899	c.642C>T	c.(640-642)tcC>tcT	p.S214S	HTR3B_ENST00000537778.1_Silent_p.S203S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	214					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTGTGTCCTCCACATACAGCA	0.498000													6	45					0	0	0.001168	0	0
ZNF527	84503	broad.mit.edu	37	19	37879780	37879780	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:37879780G>A	ENST00000436120.2	+	5	936	c.829G>A	c.(829-831)Gat>Aat	p.D277N	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCATGGATACGATGAATGTGG	0.373000													8	161					0	0	0.004482	0	0
AHDC1	27245	broad.mit.edu	37	1	27875156	27875156	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:27875156C>A	ENST00000374011.2	-	6	4439	c.3471G>T	c.(3469-3471)acG>acT	p.T1157T	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.T1157T	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1157							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGACACAGCCGTCTGCTGCT	0.577000													15	64					9.16793e-09	1.1361e-08	0.004990	1	0
BAGE2	85319	broad.mit.edu	37	21	11049542	11049542	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr21:11049542C>A	ENST00000470054.1	-	0	566									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)		CATGATAGTGCTGACCACAAG	0.448000													18	170					2.21704e-12	2.94363e-12	0.002780	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890546	23890546	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:23890546T>G	ENST00000532292.1	-	1	629	c.535A>C	c.(535-537)Acc>Ccc	p.T179P		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGAGCAAAGGTCTCCGGTGTG	0.587000													6	33					0	0	0.001984	0	0
DSG4	147409	broad.mit.edu	37	18	28983544	28983544	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:28983544T>C	ENST00000359747.4	+	11	1612	c.1583T>C	c.(1582-1584)gTt>gCt	p.V528A	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V528A|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	528					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTTTCTGTGTTGTTGATGAG	0.393000													16	55					0	0	0.004007	0	0
TSKU	25987	broad.mit.edu	37	11	76507127	76507127	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:76507127A>T	ENST00000527881.1	+	2	1493	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	TSKU_ENST00000333090.4_Missense_Mutation_p.Q156L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	156						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					ACGCACAGTCAGGGCCGGGCA	0.657000													11	70					0	0	0.001368	0	0
LACRT	90070	broad.mit.edu	37	12	55026152	55026152	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:55026152T>A	ENST00000257867.4	-	3	179	c.126A>T	c.(124-126)gaA>gaT	p.E42D	LACRT_ENST00000547511.1_Missense_Mutation_p.E42D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	42					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CTGAGATCTCTTCATTAGGCT	0.502000													40	182					0	0	0.011902	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62372772	62372772	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:62372772C>G	ENST00000266077.2	+	3	383	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	111						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGCCGCTGCCCTTACAAGCCT	0.662000													7	44					0	0	0.001984	0	0
ARPC2	10109	broad.mit.edu	37	2	219104121	219104121	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:219104121G>C	ENST00000295685.10	+	6	724	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ARPC2_ENST00000315717.5_Missense_Mutation_p.E155Q|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	155					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CAGGTATGTTGAGTCTAAAAA	0.413000													6	52					0	0	0.001984	0	0
C12orf71	728858	broad.mit.edu	37	12	27234391	27234391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:27234391G>A	ENST00000429849.2	-	2	556	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	176										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCGGTTGCCTGGCTTATCATC	0.478000													15	68					0	0	0.003163	0	0
NKAIN4	128414	broad.mit.edu	37	20	61881323	61881323	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:61881323G>A	ENST00000370316.3	-	2	245	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NKAIN4_ENST00000370313.1_5'UTR|NKAIN4_ENST00000370307.2_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	52						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					GGATGGTGCCGAAGAGTCCCA	0.622000													4	33					0	0	0.009096	0	0
PNPT1	87178	broad.mit.edu	37	2	55873549	55873549	+	Splice_Site	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:55873549C>A	ENST00000447944.2	-	20	1761		c.e20+1			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTAAAAATACCTGTAATGCA	0.279000													28	41					4.87955e-14	6.61776e-14	0.005443	1	0
POLQ	10721	broad.mit.edu	37	3	121206232	121206232	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:121206232C>T	ENST00000264233.5	-	16	5674	c.5546G>A	c.(5545-5547)cGa>cAa	p.R1849Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1849					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GATGGAAAATCGCTTTTTGCA	0.368000								DNA polymerases (catalytic subunits)					19	69					0	0	0.012319	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	52					3.86212e-05	4.26724e-05	0.008291	1	0
SLC44A5	204962	broad.mit.edu	37	1	75684425	75684425	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:75684425T>C	ENST00000370855.5	-	17	1392	c.1279A>G	c.(1279-1281)Act>Gct	p.T427A	SLC44A5_ENST00000370859.3_Missense_Mutation_p.T427A|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T297A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	427						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GCAATTTCAGTTGTATTAAAA	0.388000													9	50					0	0	0.004482	0	0
DYRK4	8798	broad.mit.edu	37	12	4702241	4702241	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:4702241G>C	ENST00000540757.2	+	4	352	c.192G>C	c.(190-192)tgG>tgC	p.W64C	DYRK4_ENST00000543431.1_Missense_Mutation_p.W64C|DYRK4_ENST00000010132.5_Missense_Mutation_p.W64C	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	64						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CGGAGCTGTGGTTCCTGGGTC	0.473000													11	63					0	0	0.008291	0	0
SCAF8	22828	broad.mit.edu	37	6	155116210	155116210	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:155116210G>C	ENST00000367178.3	+	6	1119	c.543G>C	c.(541-543)caG>caC	p.Q181H	SCAF8_ENST00000367186.4_Missense_Mutation_p.Q247H|SCAF8_ENST00000417268.1_Missense_Mutation_p.Q181H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	181					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GGGTATCTCAGATAACAAATA	0.438000													12	63					0	0	0.001368	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59982897	59982897	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:59982897C>A	ENST00000265036.5	-	2	273	c.206G>T	c.(205-207)cGc>cTc	p.R69L	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69L|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42L	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	69	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGTTTGTTTGCGGGTCACTTC	0.473000													26	73					1.85244e-09	2.36037e-09	0.003330	1	0
WDR38	401551	broad.mit.edu	37	9	127619860	127619860	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:127619860G>C	ENST00000373574.1	+	9	952	c.896G>C	c.(895-897)aGa>aCa	p.R299T		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	299										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GATCAGACTAGACGTCAAATA	0.567000													8	28					0	0	0.003080	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107628	114107628	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr13:114107628C>G	ENST00000375418.3	-	1	211	c.125G>C	c.(124-126)gGc>gCc	p.G42A		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	42					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GTGGTCCAGGCCCCCGGAACG	0.602000													12	46					0	0	0.010729	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343625	113343625	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:113343625A>G	ENST00000409719.1	+	2	130	c.77A>G	c.(76-78)aAg>aGg	p.K26R	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Missense_Mutation_p.K26R			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	26										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						GTGGCGGCCAAGCCGGAATCC	0.627000													6	56					0	0	0.001984	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995760	57995760	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:57995760G>T	ENST00000316770.2	-	1	630	c.588C>A	c.(586-588)gaC>gaA	p.D196E		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCACGCGGATGTCAGCGCAGG	0.597000													8	30					6.5536e-12	8.62891e-12	0.003080	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148827870	148827870	+	Splice_Site	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:148827870T>A	ENST00000336498.3	+	11	1355	c.1116_splice	c.e11+1	p.A372_splice	ARHGAP10_ENST00000414545.2_Splice_Site_p.A21_splice	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	372	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAAGGAAGCTGTAAGAATAA	0.398000													11	63					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113276001	113276001	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:113276001C>G	ENST00000297405.5	-	61	9973	c.9729G>C	c.(9727-9729)agG>agC	p.R3243S	CSMD3_ENST00000455883.2_Missense_Mutation_p.R3074S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3173S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3203S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3243	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCTTCCAGCCTTCCATTAG	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	82					0	0	0.004482	0	0
SPTA1	6708	broad.mit.edu	37	1	158624504	158624504	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:158624504C>G	ENST00000368148.3	-	21	3113	c.2933G>C	c.(2932-2934)gGa>gCa	p.G978A	SPTA1_ENST00000368147.3_Missense_Mutation_p.G978A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	978	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTTGTTCTCCAGCAACTCC	0.502000													9	59					0	0	0.006214	0	0
MROH7	374977	broad.mit.edu	37	1	55139467	55139467	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:55139467C>T	ENST00000414150.2	+	9	2067	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	MROH7_ENST00000395690.2_Silent_p.L597L|MROH7_ENST00000409996.1_Silent_p.L165L|MROH7_ENST00000339553.5_Silent_p.L597L|MROH7_ENST00000421030.2_Silent_p.L597L|MROH7_ENST00000454855.2_Silent_p.L115L|MROH7_ENST00000545244.1_Silent_p.L165L					maestro heat-like repeat family member 7																		GCTTCTAACTCTGCCTTTCTT	0.562000													12	72					0	0	0.001368	0	0
SLX4	84464	broad.mit.edu	37	16	3634823	3634823	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr16:3634823C>T	ENST00000294008.3	-	13	5326	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1562	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACTGTGGCATCGGCGTTATGG	0.507000								Direct reversal of damage					25	135					0	0	0.004656	0	0
TNKS	8658	broad.mit.edu	37	8	9605665	9605665	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:9605665T>A	ENST00000310430.6	+	18	2801	c.2775T>A	c.(2773-2775)caT>caA	p.H925Q	TNKS_ENST00000518281.1_Missense_Mutation_p.H688Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	925					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCCTAGCGCATGGTGCAGACC	0.512000													12	43					0	0	0.002450	0	0
PTPN11	5781	broad.mit.edu	37	12	112926931	112926931	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:112926931G>T	ENST00000351677.2	+	13	1749	c.1551G>T	c.(1549-1551)gcG>gcT	p.A517A		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	521	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCTATATGGCGGTCCAGCATT	0.498000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				32	166					1.04352e-10	1.357e-10	0.003755	1	0
MARCO	8685	broad.mit.edu	37	2	119727747	119727747	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:119727747T>C	ENST00000541757.1	+	4	403	c.23T>C	c.(22-24)cTg>cCg	p.L8P	MARCO_ENST00000327097.4_Missense_Mutation_p.L86P			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	86					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AATGACACTCTGGCGGCTGAG	0.592000													12	37					0	0	0.010729	0	0
MLLT6	4302	broad.mit.edu	37	17	36872846	36872846	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:36872846G>A	ENST00000325718.7	+	10	1354	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	421					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGGCCCGGGCGCCCTCCCCTG	0.662000			T	MLL	AL								10	50					0	0	0.010729	0	0
POLL	27343	broad.mit.edu	37	10	103339491	103339491	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:103339491C>A	ENST00000370162.3	-	9	1941	c.1447G>T	c.(1447-1449)Ggg>Tgg	p.G483W	POLL_ENST00000339310.3_Missense_Mutation_p.G206W|POLL_ENST00000370158.3_Missense_Mutation_p.G208W|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.G395W|POLL_ENST00000370168.3_Missense_Mutation_p.G156W|POLL_ENST00000299206.4_Missense_Mutation_p.G483W|POLL_ENST00000456836.2_Missense_Mutation_p.G220W|POLL_ENST00000370169.1_Missense_Mutation_p.G483W|POLL_ENST00000463515.1_5'UTR	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	483	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TGCCGCCGCCCTGGCCCTGGG	0.617000								DNA polymerases (catalytic subunits)					21	39					1.64113e-05	1.839e-05	0.010504	1	0
ZNF675	171392	broad.mit.edu	37	19	23836867	23836867	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:23836867C>A	ENST00000359788.4	-	4	1036	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	290					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGCTTTGCCACATTCTTCA	0.383000													7	47					2.0095e-06	2.32601e-06	0.001984	1	0
HARS2	23438	broad.mit.edu	37	5	140075361	140075361	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:140075361C>T	ENST00000230771.3	+	6	787	c.564C>T	c.(562-564)ccC>ccT	p.P188P	HARS2_ENST00000448069.2_Silent_p.P49P|HARS2_ENST00000435019.2_Silent_p.P148P|HARS2_ENST00000508522.1_Silent_p.P163P|HARS2_ENST00000432671.2_Silent_p.P74P|HARS2_ENST00000437649.2_Silent_p.P114P	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	188					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATCCCCGATGCAGAGT	0.453000													27	109					0	0	0.008361	0	0
PLCB1	23236	broad.mit.edu	37	20	8782774	8782774	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:8782774C>T	ENST00000378641.3	+	32	3970	c.3495C>T	c.(3493-3495)ccC>ccT	p.P1165P	PLCB1_ENST00000378637.2_Silent_p.P1165P|PLCB1_ENST00000338037.6_Intron	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTTTACTCCCCCCAACCCTC	0.552000													8	87					0	0	0.010729	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631778	126631778	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:126631778T>C	ENST00000359653.4	+	1	1087	c.716T>C	c.(715-717)gTg>gCg	p.V239A		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	239					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCTGGTGCTGTGGGAAGCAAG	0.423000													23	47					0	0	0.002299	0	0
PTPRD	5789	broad.mit.edu	37	9	8517968	8517968	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:8517968G>C	ENST00000381196.4	-	18	1966	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	PTPRD_ENST00000360074.4_Missense_Mutation_p.Q462E|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q475E|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q472E|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q462E|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q475E|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q475E|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q475E|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q465E|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q472E|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q465E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	475	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAGTGATTTGGCTGTCAGCT	0.408000										TSP Lung(15;0.13)			19	103					0	0	0.006122	0	0
BAI3	577	broad.mit.edu	37	6	70071006	70071006	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:70071006G>T	ENST00000370598.1	+	29	4662	c.3841G>T	c.(3841-3843)Gtg>Ttg	p.V1281L	BAI3_ENST00000238918.8_Missense_Mutation_p.V487L|BAI3_ENST00000546190.1_Missense_Mutation_p.V245L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1281					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGGAGAACTGTGTACTTATG	0.413000													6	46					0.00116845	0.00122261	0.001168	1	0
IBTK	25998	broad.mit.edu	37	6	82910358	82910358	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:82910358A>G	ENST00000306270.7	-	20	3407	c.2858T>C	c.(2857-2859)gTa>gCa	p.V953A	IBTK_ENST00000503631.1_Missense_Mutation_p.V752A|IBTK_ENST00000510291.1_Missense_Mutation_p.V953A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	953					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCATCTTCTACTTCCAAATA	0.313000													3	20					0	0	0.004672	0	0
ACSBG1	23205	broad.mit.edu	37	15	78487059	78487059	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:78487059A>T	ENST00000258873.4	-	3	447	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	81					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGTCGTCCACAGCGCCTCCTC	0.657000													7	46					0	0	0.003080	0	0
ATP10A	57194	broad.mit.edu	37	15	25940215	25940215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:25940215T>A	ENST00000356865.6	-	14	2950	c.2839A>T	c.(2839-2841)Aag>Tag	p.K947*		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	947					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTTTGCCCTTGGTCTTCTCA	0.612000													13	75					0	0	0.001368	0	0
OFD1	8481	broad.mit.edu	37	X	13778743	13778743	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chrX:13778743G>T	ENST00000380567.1	+	17	2616	c.1744G>T	c.(1744-1746)Gcc>Tcc	p.A582S	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.A682S|OFD1_ENST00000340096.6_Missense_Mutation_p.A722S			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	722					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGGCAGTGCAGCCTCGAGGCT	0.517000													17	48					2.23348e-06	2.57584e-06	0.004007	1	0
TRO	7216	broad.mit.edu	37	X	54952076	54952076	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chrX:54952076C>T	ENST00000173898.7	+	7	1649	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	TRO_ENST00000375041.2_Missense_Mutation_p.L116F|TRO_ENST00000420798.2_Missense_Mutation_p.L44F|TRO_ENST00000319167.8_Missense_Mutation_p.L513F|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.L116F|TRO_ENST00000375022.4_Missense_Mutation_p.L513F	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	513	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTTGTATATTCTCATCAGCAC	0.438000													3	16					0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40368434	40368434	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:40368434T>A	ENST00000221347.6	-	28	12921	c.12914A>T	c.(12913-12915)aAg>aTg	p.K4305M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4305						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACACAGCCCTTGAAGAAGCT	0.627000													26	142					0	0	0.008361	0	0
C1orf177	163747	broad.mit.edu	37	1	55277503	55277503	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:55277503G>A	ENST00000358193.3	+	5	571	c.517G>A	c.(517-519)Ggt>Agt	p.G173S	C1orf177_ENST00000371273.3_Missense_Mutation_p.G173S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	173										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGGGGAGAAGGGTAACCCATA	0.582000													5	36					0	0	0.000602	0	0
NCOR2	9612	broad.mit.edu	37	12	124825234	124825234	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:124825234G>C	ENST00000356219.3	-	36	5428	c.5273C>G	c.(5272-5274)cCa>cGa	p.P1758R	NCOR2_ENST00000404121.2_Missense_Mutation_p.P1312R|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1741R|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1751R|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1741R|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1742R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1759					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGGTGGCTGGGGTGCCTGG	0.701000													3	8					0	0	0.009096	0	0
INPPL1	3636	broad.mit.edu	37	11	71944745	71944745	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:71944745G>T	ENST00000298229.2	+	19	2373	c.2169G>T	c.(2167-2169)ggG>ggT	p.G723G	INPPL1_ENST00000538751.1_Silent_p.G481G|INPPL1_ENST00000541756.1_Silent_p.G481G	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	723					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTGTTTGGGACATTTGAGG	0.542000													17	81					7.41877e-09	9.22965e-09	0.012319	1	0
SLC16A1	6566	broad.mit.edu	37	1	113460177	113460177	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:113460177A>G	ENST00000538576.1	-	4	1682	c.851T>C	c.(850-852)cTt>cCt	p.L284P	SLC16A1_ENST00000369626.3_Missense_Mutation_p.L284P|SLC16A1_ENST00000433570.4_Missense_Mutation_p.L284P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	284					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATAACTACTAAGAAACACCAA	0.433000													10	46					0	0	0.008291	0	0
SMARCC2	6601	broad.mit.edu	37	12	56574782	56574782	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:56574782C>G	ENST00000394023.3	-	11	1165	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E354Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E354Q|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E354Q	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	354					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGTGTCACCTCTTCTACATTG	0.547000													29	150					0	0	0.008361	0	0
IMPG2	50939	broad.mit.edu	37	3	100995528	100995528	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:100995528C>A	ENST00000193391.7	-	5	750	c.563G>T	c.(562-564)gGt>gTt	p.G188V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	188					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAAGTATCACCAACAGGAAC	0.323000													8	32					3.09899e-07	3.66771e-07	0.004482	1	0
PSMB1	5689	broad.mit.edu	37	6	170846342	170846342	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:170846342G>C	ENST00000262193.6	-	5	618	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	AGCAGGGGCTGTAGCATGGCA	0.473000													6	29					0	0	0.001168	0	0
DTX1	1840	broad.mit.edu	37	12	113531362	113531362	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:113531362T>C	ENST00000257600.3	+	4	1525	c.1022T>C	c.(1021-1023)cTg>cCg	p.L341P	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	341	Pro-rich.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGATACTGCTGTGCGCGGCC	0.741000													4	11					0	0	0.009096	0	0
KAT7	11143	broad.mit.edu	37	17	47903416	47903416	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:47903416C>T	ENST00000503935.2	+	13	2103	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	KAT7_ENST00000259021.4_Missense_Mutation_p.S512L|KAT7_ENST00000454930.2_Missense_Mutation_p.S373L|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000435742.2_Missense_Mutation_p.S326L|KAT7_ENST00000424009.2_Missense_Mutation_p.S482L|KAT7_ENST00000510819.1_Missense_Mutation_p.S343L|KAT7_ENST00000509773.1_Missense_Mutation_p.S402L			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	512					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CGTCCACTCTCAGATCTGGGG	0.418000													20	97					0	0	0.010504	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844905	18844905	+	RNA	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr22:18844905C>A	ENST00000412938.1	+	0	3155																											TTCAGCGTGCCTGCGATGGCG	0.572000													12	94					3.07112e-06	3.50351e-06	0.010729	1	0
VWA3B	200403	broad.mit.edu	37	2	98736074	98736074	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:98736074C>T	ENST00000477737.1	+	4	594	c.390C>T	c.(388-390)agC>agT	p.S130S	VWA3B_ENST00000435344.1_Silent_p.S130S|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	130										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGCAAGAGCCGGCAGATTT	0.493000													48	110					0	0	0.003610	0	0
OR2F1	26211	broad.mit.edu	37	7	143657989	143657989	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:143657989C>A	ENST00000392899.1	+	1	963	c.926C>A	c.(925-927)tCt>tAt	p.S309Y		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGAAATTCTCTGGGTTAACA	0.433000													12	58					1.61879e-10	2.09647e-10	0.001368	1	0
NAPG	8774	broad.mit.edu	37	18	10550089	10550089	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:10550089C>T	ENST00000322897.6	+	12	880	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	NAPG_ENST00000542979.1_Silent_p.L189L	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	271					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						TAAGCTGGGCCTGAGTTTGGT	0.478000													7	35					0	0	0.003080	0	0
OR2T4	127074	broad.mit.edu	37	1	248525593	248525593	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:248525593C>A	ENST00000366475.1	+	1	711	c.711C>A	c.(709-711)ctC>ctA	p.L237L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGTGTCCTCATGCTCCTCA	0.473000													100	107					2.78421e-50	4.0732e-50	0.003610	1	0
IMMP2L	83943	broad.mit.edu	37	7	110603617	110603617	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:110603617G>A	ENST00000405709.2	-	4	686	c.244C>T	c.(244-246)Cct>Tct	p.P82S	IMMP2L_ENST00000437687.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000331762.3_Missense_Mutation_p.P82S|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Missense_Mutation_p.P82S|IMMP2L_ENST00000450877.1_Missense_Mutation_p.P64S|IMMP2L_ENST00000447215.1_Missense_Mutation_p.P82S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	82					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGGTTTTTAGGAGACCTAGAA	0.303000													6	35					0	0	0.001168	0	0
ITGB4	3691	broad.mit.edu	37	17	73723516	73723516	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:73723516C>T	ENST00000200181.3	+	4	381	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ITGB4_ENST00000579662.1_Missense_Mutation_p.A65V|ITGB4_ENST00000339591.3_Missense_Mutation_p.A65V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.A65V|ITGB4_ENST00000449880.2_Missense_Mutation_p.A65V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	65	PSI.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACACCCAGGCGGAGCTGCTG	0.657000													4	36					0	0	0.009096	0	0
RNF150	57484	broad.mit.edu	37	4	141847164	141847164	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:141847164G>A	ENST00000306799.3	-	5	1481	c.828C>T	c.(826-828)tgC>tgT	p.C276C	RNF150_ENST00000420921.2_Silent_p.C177C|RNF150_ENST00000379512.2_Silent_p.C177C|RNF150_ENST00000515673.1_Silent_p.C318C|RNF150_ENST00000507500.1_Silent_p.C318C	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	318						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGTTCATCTTGCACATGGGAC	0.493000													6	43					0	0	0.001168	0	0
HIAT1	64645	broad.mit.edu	37	1	100527433	100527433	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:100527433G>A	ENST00000370152.3	+	5	550	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	138					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTTTGCAGTGACTTTTTCTG	0.353000													7	64					0	0	0.001984	0	0
UNC5C	8633	broad.mit.edu	37	4	96140247	96140247	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:96140247G>T	ENST00000453304.1	-	9	1866	c.1518C>A	c.(1516-1518)acC>acA	p.T506T	UNC5C_ENST00000506749.1_Silent_p.T525T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	506					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACAACGACTGGGTCATCTGAG	0.527000													12	82					0.00010058	0.000110743	0.001368	1	0
SLC22A11	55867	broad.mit.edu	37	11	64329845	64329845	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:64329845G>T	ENST00000301891.4	+	4	1133	c.759G>T	c.(757-759)cgG>cgT	p.R253R	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.R253R|SLC22A11_ENST00000377581.3_Silent_p.R253R	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	253					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTGCCCTGCGGGACTGGAGGA	0.627000													19	117					4.35082e-09	5.52152e-09	0.010504	1	0
CYB5R4	51167	broad.mit.edu	37	6	84627753	84627753	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:84627753A>G	ENST00000369681.4	+	6	615	c.475A>G	c.(475-477)Aca>Gca	p.T159A		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	159					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTGACAGATACACTTGCCAA	0.284000													12	45					0	0	0.001855	0	0
KCNT2	343450	broad.mit.edu	37	1	196309512	196309512	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:196309512C>A	ENST00000367433.5	-	16	1843	c.1742G>T	c.(1741-1743)gGa>gTa	p.G581V	KCNT2_ENST00000451324.2_Missense_Mutation_p.G192V|KCNT2_ENST00000294725.8_Missense_Mutation_p.G581V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G531V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	581						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCTGGAAGGTCCATGATAAAA	0.294000													15	85					4.7546e-09	6.00982e-09	0.004007	1	0
KDELC2	143888	broad.mit.edu	37	11	108357018	108357018	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:108357018T>A	ENST00000434945.2	-	2	684	c.382A>T	c.(382-384)Aaa>Taa	p.K128*	KDELC2_ENST00000375648.1_Nonsense_Mutation_p.K128*|KDELC2_ENST00000323468.5_Nonsense_Mutation_p.K184*			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	184						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		CCAAACCTTTTGGGGACTTCT	0.418000													28	104					0	0	0.008361	0	0
MAS1L	116511	broad.mit.edu	37	6	29455123	29455123	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:29455123G>C	ENST00000377127.3	-	1	615	c.557C>G	c.(556-558)cCa>cGa	p.P186R		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	186						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGTGTATTTTGGGCGGTGGCA	0.483000													7	62					0	0	0.001984	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582498	24582498	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:24582498C>T	ENST00000535378.1	-	7	1785	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	KIAA0319_ENST00000430948.2_Silent_p.K345K|KIAA0319_ENST00000378214.3_Silent_p.K390K|KIAA0319_ENST00000537886.1_Silent_p.K390K|KIAA0319_ENST00000543707.1_Silent_p.K390K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	390	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TAAGAGTTTGCTTGTGTCCTT	0.393000													19	109					0	0	0.006122	0	0
POU5F2	134187	broad.mit.edu	37	5	93077092	93077092	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:93077092C>T	ENST00000510627.4	-	1	251	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATCCTCCACACGTCAGGGCCT	0.672000													8	13					0	0	0.004482	0	0
C3orf22	152065	broad.mit.edu	37	3	126268894	126268894	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr3:126268894C>A	ENST00000318225.2	-	4	621	c.243G>T	c.(241-243)ccG>ccT	p.P81P		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	81										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		AGGAGCCAGACGGTGATGTAA	0.607000													10	32					0.010729	0.0109721	0.010729	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454623	84454623	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr13:84454623G>T	ENST00000377084.2	-	1	1905	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	340	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCCAGGGCAGGGTAAACTGT	0.542000													15	57					1.52009e-12	2.02679e-12	0.003163	1	0
MKS1	54903	broad.mit.edu	37	17	56291678	56291678	+	Missense_Mutation	SNP	C	C	G	rs140677541	by1000genomes	TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:56291678C>G	ENST00000393119.2	-	6	660	c.586G>C	c.(586-588)Gtc>Ctc	p.V196L	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.V196L|MKS1_ENST00000537529.2_Missense_Mutation_p.V186L|MKS1_ENST00000313863.6_Missense_Mutation_p.V196L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	196					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGTTAATGACGTGGTTGTTC	0.542000													15	64					0	0	0.003163	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826457	34826457	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:34826457C>T	ENST00000192788.5	+	14	2495	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S775L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	775										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATCCGCGGTCAAAGACTGAA	0.488000													12	85					0	0	0.010729	0	0
SLFN13	146857	broad.mit.edu	37	17	33768259	33768259	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:33768259C>T	ENST00000285013.6	-	6	2324	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K	SLFN13_ENST00000533791.1_Silent_p.K683K|SLFN13_ENST00000534689.1_Silent_p.K365K|SLFN13_ENST00000526861.1_Silent_p.K683K|SLFN13_ENST00000542635.1_Silent_p.K683K|SLFN13_ENST00000360502.2_Silent_p.K365K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	683						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGTTTTTGCCTTCCTATACC	0.458000													17	106					0	0	0.004007	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103048546	103048546	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:103048546C>A	ENST00000375735.2	+	38	6280	c.6136C>A	c.(6136-6138)Caa>Aaa	p.Q2046K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2046K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2046	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCGGGAACCTCAAGGTTAGTC	0.358000													10	23					3.07112e-06	3.50351e-06	0.010729	1	0
LRP6	4040	broad.mit.edu	37	12	12300342	12300342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:12300342C>A	ENST00000261349.4	-	15	3431	c.3355G>T	c.(3355-3357)Gct>Tct	p.A1119S	LRP6_ENST00000543091.1_Missense_Mutation_p.A1119S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1119	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCTGAATCAGCCCAAAAGAGC	0.423000													14	80					0.000308642	0.000329496	0.003163	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270129	185270129	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:185270129C>T	ENST00000367498.3	-	10	1717	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.E147E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	365	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGCCATTCATCTCTGCTGTTC	0.433000													22	87					0	0	0.002299	0	0
POLD4	57804	broad.mit.edu	37	11	67120164	67120164	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:67120164G>A	ENST00000312419.3	-	3	443	c.297C>T	c.(295-297)tgC>tgT	p.C99C	POLD4_ENST00000529704.1_5'UTR|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000539074.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	99					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			TCTCTGACCTGCACTGGAAGC	0.657000													9	35					0	0	0.004482	0	0
M1AP	130951	broad.mit.edu	37	2	74789538	74789538	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:74789538G>T	ENST00000290536.5	-	8	1203	c.1087C>A	c.(1087-1089)Ctg>Atg	p.L363M	M1AP_ENST00000409585.1_Missense_Mutation_p.L363M|M1AP_ENST00000358434.2_Intron|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L363M	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		GCTAACAGCAGCCATTCCCTT	0.498000													27	42					2.44723e-14	3.3333e-14	0.004656	1	0
MARCH7	64844	broad.mit.edu	37	2	160605023	160605023	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:160605023G>A	ENST00000259050.3	+	5	1344	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	MARCH7_ENST00000409591.1_Missense_Mutation_p.E370K|MARCH7_ENST00000409175.1_Missense_Mutation_p.E408K|MARCH7_ENST00000539065.1_Missense_Mutation_p.E352K	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	408	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GGGAAGAGATGAATCTTCAAG	0.398000													15	76					0	0	0.003163	0	0
ZNF223	7766	broad.mit.edu	37	19	44571045	44571045	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:44571045G>T	ENST00000591793.1	+	7	1477	c.1394G>T	c.(1393-1395)cGg>cTg	p.R465L	ZNF223_ENST00000434772.3_Missense_Mutation_p.R355L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGCTTCAGACGGTCCTCCTAT	0.443000													31	74					1.88708e-17	2.66214e-17	0.008361	1	0
OR10R2	343406	broad.mit.edu	37	1	158450450	158450450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:158450450C>A	ENST00000368152.1	+	1	783	c.783C>A	c.(781-783)tgC>tgA	p.C261*	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTTCCACCTGCGCCTCTCACC	0.473000													19	65					8.28177e-16	1.14782e-15	0.007413	1	0
FBXO48	554251	broad.mit.edu	37	2	68692136	68692136	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:68692136T>C	ENST00000377957.2	-	3	549	c.142A>G	c.(142-144)Agt>Ggt	p.S48G		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	48	F-box.									endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TCCAGCTGACTGAAAATTTTA	0.418000													20	79					0	0	0.010504	0	0
C17orf98	388381	broad.mit.edu	37	17	36997588	36997588	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:36997588C>A	ENST00000398575.4	-	1	120	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	19										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						ACAGCCACCCCGTCCAAGATA	0.647000													8	50					0.000157383	0.000172087	0.003080	1	0
VAV1	7409	broad.mit.edu	37	19	6848029	6848029	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:6848029G>A	ENST00000304076.2	+	22	2061	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R646Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R581Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R678Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R623Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	678	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCCATGGAGCGGGCAGGGGCA	0.592000													19	52					0	0	0.008871	0	0
PAOX	196743	broad.mit.edu	37	10	135203163	135203163	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:135203163G>T	ENST00000278060.5	+	6	1387	c.1304G>T	c.(1303-1305)gGg>gTg	p.G435V	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000357296.3_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	573					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)		TACACTAGGGGGTCCTACAGC	0.682000													14	28					9.31168e-06	1.04715e-05	0.001855	1	0
KCND3	3752	broad.mit.edu	37	1	112524485	112524485	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:112524485C>T	ENST00000369697.1	-	1	933	c.864G>A	c.(862-864)acG>acA	p.T288T	KCND3_ENST00000302127.4_Silent_p.T288T|KCND3_ENST00000315987.2_Silent_p.T288T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	288						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGACCCGGAGCGTGACGAAGG	0.602000													9	51					0	0	0.004482	0	0
TBX15	6913	broad.mit.edu	37	1	119427585	119427585	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:119427585T>A	ENST00000369429.3	-	8	1588	c.1579A>T	c.(1579-1581)Agg>Tgg	p.R527W	TBX15_ENST00000207157.3_Missense_Mutation_p.R421W			Q96SF7	TBX15_HUMAN	T-box 15	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCAGCTAGCCTAGGGGAAGTG	0.537000													5	30					0	0	0.000602	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356902	37356902	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:37356902G>T	ENST00000217420.1	+	2	1461	c.1198G>T	c.(1198-1200)Gcc>Tcc	p.A400S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	400					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.A400T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCATTCTTTGCCGCTGTCGA	0.627000													15	53					3.32936e-07	3.92566e-07	0.006122	1	0
ACSM5	54988	broad.mit.edu	37	16	20451726	20451726	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr16:20451726C>A	ENST00000331849.4	+	14	1864	c.1717C>A	c.(1717-1719)Cga>Aga	p.R573R	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	573					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGTAAATTGCGAAGTCAGGA	0.483000													6	35					2.74318e-10	3.52376e-10	0.006214	1	0
C1QL2	165257	broad.mit.edu	37	2	119915264	119915264	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:119915264C>A	ENST00000272520.3	-	1	1201	c.582G>T	c.(580-582)aaG>aaT	p.K194N		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	194	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GGCAGCTGAACTTGCCCGTGG	0.597000										HNSCC(49;0.14)			11	23					5.16669e-11	6.77458e-11	0.010729	1	0
NDUFS8	4728	broad.mit.edu	37	11	67804059	67804059	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:67804059G>A	ENST00000313468.5	+	7	739	c.632G>A	c.(631-633)tGa>tAa	p.*211*	NDUFS8_ENST00000528492.1_Silent_p.*65*	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	0					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	TTGTATCGGTGACGCCCCACC	0.622000													11	17					0	0	0.003163	0	0
UNCX	340260	broad.mit.edu	37	7	1275635	1275635	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:1275635G>A	ENST00000316333.8	+	3	729	c.618G>A	c.(616-618)aaG>aaA	p.K206K		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	206					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGAAGCGCAAGCACGAGAAGA	0.687000													4	14					0	0	0.009096	0	0
FAM91A1	157769	broad.mit.edu	37	8	124824840	124824840	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:124824840G>A	ENST00000334705.7	+	24	2659	c.2413G>A	c.(2413-2415)Gtt>Att	p.V805I		NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	805										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGACATGGGTGTTCCACTTCC	0.393000													16	87					0	0	0.003163	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171550	207171550	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:207171550T>A	ENST00000374423.3	+	5	2684	c.2298T>A	c.(2296-2298)caT>caA	p.H766Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	766							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCAGTCTCATCTGGATGCTG	0.408000													63	121					0	0	0.003610	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262642	132262642	+	Silent	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:132262642T>A	ENST00000261674.4	+	14	2316	c.2175T>A	c.(2173-2175)acT>acA	p.T725T	SFSWAP_ENST00000541286.1_Silent_p.T725T	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	725					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTCTACTGACTGGAGGCAGGC	0.423000													4	43					0	0	0.009096	0	0
KLHL5	51088	broad.mit.edu	37	4	39109252	39109252	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:39109252A>G	ENST00000261425.3	+	9	1741	c.1589A>G	c.(1588-1590)aAc>aGc	p.N530S	KLHL5_ENST00000359687.2_Missense_Mutation_p.N576S|KLHL5_ENST00000508137.2_Missense_Mutation_p.N389S|KLHL5_ENST00000261426.5_Missense_Mutation_p.N515S|KLHL5_ENST00000381930.3_Missense_Mutation_p.N576S|KLHL5_ENST00000504108.1_Missense_Mutation_p.N576S	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	576						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGCTATCTGAACACAGTGGAA	0.493000													13	63					0	0	0.001368	0	0
CPEB1	64506	broad.mit.edu	37	15	83222209	83222209	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr15:83222209C>T	ENST00000562019.1	-	7	1387	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	CPEB1_ENST00000450751.2_Intron|CPEB1_ENST00000423133.2_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.M282I|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000261723.6_Intron|CPEB1_ENST00000568128.1_Intron|RP11-152F13.10_ENST00000562833.1_Intron|CPEB1_ENST00000568757.1_Intron|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Intron|CPEB1_ENST00000563800.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	357	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TACCTTTAGGCATATTACCTT	0.478000													6	33					0	0	0.001168	0	0
DLC1	10395	broad.mit.edu	37	8	12958070	12958070	+	Silent	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:12958070A>T	ENST00000276297.4	-	9	2185	c.1776T>A	c.(1774-1776)tcT>tcA	p.S592S	DLC1_ENST00000512044.2_Silent_p.S189S|DLC1_ENST00000520226.1_Silent_p.S81S|DLC1_ENST00000358919.2_Silent_p.S155S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	592					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGCGGACGGAAGACACCTCCT	0.687000													10	45					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237941998	237941998	+	Silent	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:237941998A>G	ENST00000366574.2	+	88	12125	c.11808A>G	c.(11806-11808)gcA>gcG	p.A3936A	RYR2_ENST00000360064.6_Silent_p.A3942A|RYR2_ENST00000542537.1_Silent_p.A3920A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3936					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)			AGAGTTTGGCACACAGCAGGC	0.448000													32	37					0	0	0.003755	0	0
NOM1	64434	broad.mit.edu	37	7	156762350	156762350	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:156762350G>A	ENST00000275820.3	+	11	2551	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	846					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAGAAAGCTGACCTTGCAAC	0.507000													24	90					0	0	0.003330	0	0
DLAT	1737	broad.mit.edu	37	11	111908007	111908007	+	Silent	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:111908007A>T	ENST00000280346.6	+	6	1457	c.798A>T	c.(796-798)gtA>gtT	p.V266V	DLAT_ENST00000393051.1_Intron|DLAT_ENST00000537636.1_Silent_p.V37V	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	266	Lipoyl-binding 2.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GTTTTGAAGTACAGGAAGAAG	0.388000													9	38					0	0	0.006214	0	0
DTNA	1837	broad.mit.edu	37	18	32407596	32407596	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:32407596C>G	ENST00000283365.9	+	12	1401	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000399113.3_Missense_Mutation_p.F350L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	350					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACACCCTGTTCTCCCACTCTG	0.403000													15	94					0	0	0.006122	0	0
FCRL5	83416	broad.mit.edu	37	1	157514712	157514712	+	Silent	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:157514712T>A	ENST00000361835.3	-	4	625	c.468A>T	c.(466-468)gcA>gcT	p.A156A	FCRL5_ENST00000368189.3_Silent_p.A156A|FCRL5_ENST00000368190.3_Silent_p.A156A|FCRL5_ENST00000356953.4_Silent_p.A156A|FCRL5_ENST00000368191.3_Silent_p.A71A	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	156						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)				CCTTGAGACATGCATGAGGAA	0.403000													54	126					0	0	0.003610	0	0
IL2RA	3559	broad.mit.edu	37	10	6066217	6066217	+	Silent	SNP	C	C	A	rs150164762		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:6066217C>A	ENST00000379959.3	-	3	530	c.357G>T	c.(355-357)gcG>gcT	p.A119A	IL2RA_ENST00000379954.1_Silent_p.A119A|IL2RA_ENST00000256876.6_Silent_p.A119A	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	119					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGGAAGGCTCGCTTGGTCCA	0.507000													17	28					1.99824e-07	2.3828e-07	0.004990	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121659316	121659316	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:121659316A>G	ENST00000393386.2	+	13	5393	c.4982A>G	c.(4981-4983)tAc>tGc	p.Y1661C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y801C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1661					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTCTCATCTACTGGAGGTAA	0.388000													16	58					0	0	0.006122	0	0
BPIFA2	140683	broad.mit.edu	37	20	31757049	31757049	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr20:31757049T>C	ENST00000253362.2	+	2	244	c.98T>C	c.(97-99)gTg>gCg	p.V33A	BPIFA2_ENST00000354932.5_Missense_Mutation_p.V33A			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	33						extracellular region	lipid binding										AGCAATGTCGTGGATAAGCTG	0.453000													27	116					0	0	0.007291	0	0
SPAM1	6677	broad.mit.edu	37	7	123594452	123594452	+	Silent	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:123594452C>A	ENST00000340011.5	+	3	1185	c.828C>A	c.(826-828)ctC>ctA	p.L276L	SPAM1_ENST00000402183.2_Silent_p.L276L|SPAM1_ENST00000223028.7_Silent_p.L276L|SPAM1_ENST00000439500.1_Silent_p.L276L|SPAM1_ENST00000460182.1_Silent_p.L276L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	276					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTGCTACACTCTATGTGCGCA	0.423000													12	80					7.03913e-09	8.79195e-09	0.001368	1	0
NOTCH1	4851	broad.mit.edu	37	9	139393423	139393423	+	Silent	SNP	G	G	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr9:139393423G>A	ENST00000277541.6	-	33	6183	c.6108C>T	c.(6106-6108)gcC>gcT	p.A2036A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2036					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTTCACGGCGGCGGCCCAGT	0.617000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			26	108					0	0	0.007291	0	0
TAF2	6873	broad.mit.edu	37	8	120809335	120809335	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:120809335A>T	ENST00000378164.2	-	8	1284	c.986T>A	c.(985-987)cTt>cAt	p.L329H		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	329					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGTGTAAAAGATTTGTGCT	0.323000													7	62					0	0	0.001984	0	0
LRRN3	54674	broad.mit.edu	37	7	110764581	110764581	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:110764581C>G	ENST00000451085.1	+	4	2799	c.1753C>G	c.(1753-1755)Cca>Gca	p.P585A	IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P585A|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P585A	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	585	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCATCTGAATCCATCAACTGA	0.363000													4	40					0	0	0.009096	0	0
LIMA1	51474	broad.mit.edu	37	12	50594612	50594612	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr12:50594612T>A	ENST00000547825.1	-	1	1283	c.14A>T	c.(13-15)gAg>gTg	p.E5V	LIMA1_ENST00000552823.1_Missense_Mutation_p.E147V|LIMA1_ENST00000394943.3_Missense_Mutation_p.E307V|LIMA1_ENST00000552783.1_Missense_Mutation_p.E147V|LIMA1_ENST00000341247.4_Missense_Mutation_p.E307V|LIMA1_ENST00000552491.1_Missense_Mutation_p.E5V|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Missense_Mutation_p.E147V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	307					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGCACATTCTCCTTTTGCTC	0.408000													45	212					0	0	0.011902	0	0
TLL2	7093	broad.mit.edu	37	10	98157009	98157009	+	Silent	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:98157009G>T	ENST00000357947.3	-	11	1543	c.1318C>A	c.(1318-1320)Cgg>Agg	p.R440R	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	440	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACCCAGAGCCGGCTGTCCGTG	0.587000													14	37					1.05317e-09	1.34738e-09	0.002450	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697905	17697905	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:17697905G>T	ENST00000399080.2	-	1	1801	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	593										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTGTTAAAGAGTCAAAGTT	0.264000													4	30					0.00024832	0.000269653	0.009096	1	0
SMARCA4	6597	broad.mit.edu	37	19	11105504	11105504	+	Splice_Site	SNP	G	G	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:11105504G>T	ENST00000358026.2	+	9	1704	c.1419_splice	c.e9-1	p.E474_splice	SMARCA4_ENST00000450717.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000444061.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000429416.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000413806.3_Splice_Site_p.E474_splice|SMARCA4_ENST00000590574.1_Splice_Site_p.E474_splice|SMARCA4_ENST00000344626.4_Splice_Site_p.E474_splice|SMARCA4_ENST00000541122.2_Splice_Site_p.E474_splice|SMARCA4_ENST00000589677.1_Splice_Site_p.E474_splice	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	474	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTCCTGCAGGAATACCTCAA	0.483000			"""F, N, Mis"""		NSCLC								5	30					0.000602214	0.00063859	0.000602	1	0
NRXN3	9369	broad.mit.edu	37	14	79175737	79175737	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr14:79175737C>T	ENST00000554719.1	+	4	771	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.R94C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAACACTAAACGTATGGGCTC	0.527000													8	57					0	0	0.006214	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802692	128802692	+	Missense_Mutation	SNP	G	G	A	rs142211237		TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr7:128802692G>A	ENST00000289407.4	+	4	416	c.307G>A	c.(307-309)Gct>Act	p.A103T		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	103						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTGCCTCACCGCTGTGTTCCT	0.622000													40	190					0	0	0.007835	0	0
RBM15	64783	broad.mit.edu	37	1	110882321	110882321	+	Silent	SNP	C	C	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:110882321C>G	ENST00000369784.3	+	1	1194	c.294C>G	c.(292-294)ctC>ctG	p.L98L	RBM15_ENST00000602849.1_Silent_p.L98L|RBM15_ENST00000487146.2_Silent_p.L98L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	98	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGAGTCTCCACCTGGACA	0.637000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	26					0	0	0.010729	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891148	45891148	+	Silent	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:45891148C>T	ENST00000007414.3	-	15	1595	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	OSBPL7_ENST00000392507.3_Silent_p.P468P	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	468					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTGGCCGCCGGCAGGCAGC	0.667000													9	32					0	0	0.008291	0	0
FCGBP	8857	broad.mit.edu	37	19	40392512	40392512	+	Silent	SNP	G	G	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:40392512G>C	ENST00000221347.6	-	16	7999	c.7992C>G	c.(7990-7992)ctC>ctG	p.L2664L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2664	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGGAGAGGAGCCCACAGA	0.627000													12	48					0	0	0.001368	0	0
C2CD3	26005	broad.mit.edu	37	11	73803558	73803558	+	Silent	SNP	T	T	G			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:73803558T>G	ENST00000334126.7	-	19	3646	c.3420A>C	c.(3418-3420)gtA>gtC	p.V1140V	C2CD3_ENST00000313663.7_Silent_p.V1140V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1140						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCTGGGTGGTTACCATAGCAC	0.448000													10	41					0	0	0.008291	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369052	86369052	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr13:86369052C>A	ENST00000400286.2	-	2	2190	c.1592G>T	c.(1591-1593)tGg>tTg	p.W531L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	531	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTTTGTATCCATTGCTGCAG	0.443000													9	60					2.17888e-05	2.43295e-05	0.006214	1	0
GRIA4	2893	broad.mit.edu	37	11	105795189	105795189	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr11:105795189C>T	ENST00000393127.2	+	12	1987	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	GRIA4_ENST00000282499.5_Missense_Mutation_p.S514F|GRIA4_ENST00000530497.1_Missense_Mutation_p.S514F|GRIA4_ENST00000525187.1_Missense_Mutation_p.S514F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	514					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTGACTTTTCTAAGCCCTTC	0.413000													32	101					0	0	0.008361	0	0
RBM15	64783	broad.mit.edu	37	1	110884339	110884340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr1:110884339_110884340insT	ENST00000369784.3	+	1	3212_3213	c.2312_2313insT	c.(2311-2313)gggfs	p.G771fs	RBM15_ENST00000602849.1_Frame_Shift_Ins_p.G771fs|RBM15_ENST00000487146.2_Frame_Shift_Ins_p.G771fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	771					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGAAACAGGATGGGGGGACAG	0.550			T	MKL1	acute megakaryocytic leukemia								18	90	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													2	4	---	---	---	---					
AC096579.13	0	broad.mit.edu	37	2	89156745	89156745	+	RNA	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:89156745delG	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							AGGAGGAGGAGGGGGGTGAGG	0.473													4	5	---	---	---	---					
NPHP1	4867	broad.mit.edu	37	2	110936014	110936015	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr2:110936014_110936015insC	ENST00000316534.4	-	4	387_388	c.314_315insG	c.(313-315)agafs	p.R105fs	NPHP1_ENST00000418527.1_Frame_Shift_Ins_p.R105fs|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Frame_Shift_Ins_p.R105fs|NPHP1_ENST00000417665.1_Frame_Shift_Ins_p.R105fs|NPHP1_ENST00000393272.3_Frame_Shift_Ins_p.R105fs			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	105					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTATATTTTCTCTGCTTATTGT	0.356													10	95	---	---	---	---					
SLIT2	9353	broad.mit.edu	37	4	20569169	20569169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr4:20569169delC	ENST00000504154.1	+	28	3131	c.2879delC	c.(2878-2880)gcfs	p.A960fs	SLIT2_ENST00000503837.1_Frame_Shift_Del_p.A956fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.A952fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.A964fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	960	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAATTCATGCCTGCATCAGT	0.443													10	66	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35955944	35955944	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr5:35955944delA	ENST00000274278.3	-	6	1455	c.1098delT	c.(1096-1098)ttfs	p.F366fs	UGT3A1_ENST00000507113.1_Frame_Shift_Del_p.F332fs|UGT3A1_ENST00000503189.1_Frame_Shift_Del_p.F366fs|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	366						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)			CATGAGTGACAAAAAGACGGA	0.478													27	110	---	---	---	---					
PRSS35	167681	broad.mit.edu	37	6	84234033	84234033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr6:84234033delG	ENST00000536636.1	+	3	1218	c.873delG	c.(871-873)atfs	p.M291fs	PRSS35_ENST00000369700.3_Frame_Shift_Del_p.M291fs	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	291	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGAAATACATGGAACTTGGAA	0.483													9	75	---	---	---	---					
DOCK5	80005	broad.mit.edu	37	8	25191656	25191677	+	Frame_Shift_Del	DEL	TAATCCTGTACTTGAAACCTAC	TAATCCTGTACTTGAAACCTAC	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:25191656_25191677delTAATCCTGTACTTGAAACCTAC	ENST00000276440.7	+	21	2180_2201	c.2136_2157delTAATCCTGTACTTGAAACCTAC	c.(2134-2157)ttfs	p.FNPVLETY712fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	712						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.N713Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCAGCATTTTAATCCTGTACTTGAAACCTACATTTACAAGC	0.374													7	73	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	124989784	124989784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr8:124989784delA	ENST00000522917.1	+	10	1204	c.998delA	c.(997-999)gcfs	p.D333fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.D333fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	333	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCATGAATGACGTAGCCCTG	0.478													14	92	---	---	---	---					
PIK3AP1	118788	broad.mit.edu	37	10	98469396	98469396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr10:98469396delG	ENST00000339364.5	-	2	477	c.358delC	c.(358-360)atfs	p.H120fs		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	120						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTGCCAATGGGCCCAATCT	0.552													49	78	---	---	---	---					
MED24	9862	broad.mit.edu	37	17	38187808	38187808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr17:38187808delT	ENST00000394126.1	-	10	1543	c.1125delA	c.(1123-1125)aafs	p.K375fs	MED24_ENST00000394128.2_Frame_Shift_Del_p.K350fs|MED24_ENST00000356271.3_Frame_Shift_Del_p.K337fs|MED24_ENST00000394127.2_Frame_Shift_Del_p.K337fs|MED24_ENST00000501516.3_Frame_Shift_Del_p.K369fs			O75448	MED24_HUMAN	mediator complex subunit 24	350					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCTGGTCAGCTTTGTCCAACA	0.557													13	98	---	---	---	---					
ZNF519	162655	broad.mit.edu	37	18	14104974	14104974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr18:14104974delC	ENST00000590202.1	-	3	1717	c.1565delG	c.(1564-1566)gcfs	p.G522fs	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAAAGCTTTGCCACATTCTTT	0.383													13	108	---	---	---	---					
NLRP11	204801	broad.mit.edu	37	19	56321040	56321040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chr19:56321040delG	ENST00000443188.1	-	5	1646	c.936delC	c.(934-936)ttfs	p.F313fs	NLRP11_ENST00000589093.1_Frame_Shift_Del_p.F313fs|NLRP11_ENST00000592953.1_Frame_Shift_Del_p.F214fs|NLRP11_ENST00000589824.2_Frame_Shift_Del_p.F313fs|NLRP11_ENST00000360133.3_Frame_Shift_Del_p.F313fs	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	313	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGTCTTTAAAGAAAGAGTTAA	0.488													10	38	---	---	---	---					
KLHL34	257240	broad.mit.edu	37	X	21675702	21675703	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	c8916963-a228-49f0-8f22-50a9bbc67c6b	g.chrX:21675702_21675703delCG	ENST00000379499.2	-	1	745_746	c.204_205delCG	c.(202-207)cgtgfs	p.RV68fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	68	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGGTGGATCACGCGCGCCCGGG	0.644													6	11	---	---	---	---					
RBM15	64783	broad.mit.edu	37	1	110884339	110884340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr1:110884339_110884340insT	ENST00000369784.3	+	1	3212_3213	c.2312_2313insT	c.(2311-2313)gggfs	p.G771fs	RBM15_ENST00000602849.1_Frame_Shift_Ins_p.G771fs|RBM15_ENST00000487146.2_Frame_Shift_Ins_p.G771fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	771					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGAAACAGGATGGGGGGACAG	0.550			T	MKL1	acute megakaryocytic leukemia								18	90	---	---	---	---					
AC096579.13	0	broad.mit.edu	37	2	89156745	89156745	+	RNA	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:89156745delG	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							AGGAGGAGGAGGGGGGTGAGG	0.473													4	5	---	---	---	---					
NPHP1	4867	broad.mit.edu	37	2	110936014	110936015	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr2:110936014_110936015insC	ENST00000316534.4	-	4	387_388	c.314_315insG	c.(313-315)agafs	p.R105fs	NPHP1_ENST00000393272.3_Frame_Shift_Ins_p.R105fs|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000418527.1_Frame_Shift_Ins_p.R105fs|NPHP1_ENST00000417665.1_Frame_Shift_Ins_p.R105fs|NPHP1_ENST00000445609.2_Frame_Shift_Ins_p.R105fs			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	105					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTATATTTTCTCTGCTTATTGT	0.356													10	95	---	---	---	---					
SLIT2	9353	broad.mit.edu	37	4	20569169	20569169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr4:20569169delC	ENST00000504154.1	+	28	3131	c.2879delC	c.(2878-2880)gcfs	p.A960fs	SLIT2_ENST00000273739.5_Frame_Shift_Del_p.A964fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.A952fs|SLIT2_ENST00000503837.1_Frame_Shift_Del_p.A956fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	960	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAATTCATGCCTGCATCAGT	0.443													10	66	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35955944	35955944	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr5:35955944delA	ENST00000274278.3	-	6	1455	c.1098delT	c.(1096-1098)ttfs	p.F366fs	UGT3A1_ENST00000507113.1_Frame_Shift_Del_p.F332fs|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Frame_Shift_Del_p.F366fs	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	366						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)			CATGAGTGACAAAAAGACGGA	0.478													27	110	---	---	---	---					
PRSS35	167681	broad.mit.edu	37	6	84234033	84234033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr6:84234033delG	ENST00000536636.1	+	3	1218	c.873delG	c.(871-873)atfs	p.M291fs	PRSS35_ENST00000369700.3_Frame_Shift_Del_p.M291fs	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	291	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGAAATACATGGAACTTGGAA	0.483													9	75	---	---	---	---					
DOCK5	80005	broad.mit.edu	37	8	25191656	25191677	+	Frame_Shift_Del	DEL	TAATCCTGTACTTGAAACCTAC	TAATCCTGTACTTGAAACCTAC	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:25191656_25191677delTAATCCTGTACTTGAAACCTAC	ENST00000276440.7	+	21	2180_2201	c.2136_2157delTAATCCTGTACTTGAAACCTAC	c.(2134-2157)ttfs	p.FNPVLETY712fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	712						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.N713Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCAGCATTTTAATCCTGTACTTGAAACCTACATTTACAAGC	0.374													7	73	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	124989784	124989784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr8:124989784delA	ENST00000522917.1	+	10	1204	c.998delA	c.(997-999)gcfs	p.D333fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.D333fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	333	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCATGAATGACGTAGCCCTG	0.478													14	92	---	---	---	---					
PIK3AP1	118788	broad.mit.edu	37	10	98469396	98469396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr10:98469396delG	ENST00000339364.5	-	2	477	c.358delC	c.(358-360)atfs	p.H120fs		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	120						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTGCCAATGGGCCCAATCT	0.552													49	78	---	---	---	---					
MED24	9862	broad.mit.edu	37	17	38187808	38187808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr17:38187808delT	ENST00000394126.1	-	10	1543	c.1125delA	c.(1123-1125)aafs	p.K375fs	MED24_ENST00000394128.2_Frame_Shift_Del_p.K350fs|MED24_ENST00000501516.3_Frame_Shift_Del_p.K369fs|MED24_ENST00000356271.3_Frame_Shift_Del_p.K337fs|MED24_ENST00000394127.2_Frame_Shift_Del_p.K337fs			O75448	MED24_HUMAN	mediator complex subunit 24	350					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCTGGTCAGCTTTGTCCAACA	0.557													13	98	---	---	---	---					
ZNF519	162655	broad.mit.edu	37	18	14104974	14104974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr18:14104974delC	ENST00000590202.1	-	3	1717	c.1565delG	c.(1564-1566)gcfs	p.G522fs	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAAAGCTTTGCCACATTCTTT	0.383													13	108	---	---	---	---					
NLRP11	204801	broad.mit.edu	37	19	56321040	56321040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chr19:56321040delG	ENST00000443188.1	-	5	1646	c.936delC	c.(934-936)ttfs	p.F313fs	NLRP11_ENST00000589824.2_Frame_Shift_Del_p.F313fs|NLRP11_ENST00000589093.1_Frame_Shift_Del_p.F313fs|NLRP11_ENST00000360133.3_Frame_Shift_Del_p.F313fs|NLRP11_ENST00000592953.1_Frame_Shift_Del_p.F214fs	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	313	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGTCTTTAAAGAAAGAGTTAA	0.488													10	38	---	---	---	---					
KLHL34	257240	broad.mit.edu	37	X	21675702	21675703	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-86-7711-01A-11D-2063-08	TCGA-86-7711-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8ffe40d-790c-45fb-8545-497d9ceab222	3349d78a-84cf-4410-991b-036a46dc5329	g.chrX:21675702_21675703delCG	ENST00000379499.2	-	1	745_746	c.204_205delCG	c.(202-207)cgtgfs	p.RV68fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	68	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGGTGGATCACGCGCGCCCGGG	0.644													6	11	---	---	---	---					
