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
ONECUT2	9480	broad.mit.edu	37	18	55103683	55103683	+	Silent	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:55103683T>C	ENST00000491143.2	+	1	767	c.735T>C	c.(733-735)agT>agC	p.S245S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	245					organ morphogenesis	nucleus	sequence-specific DNA binding	p.S245S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCAGCAGAGTCTGCCCAACT	0.677000													9	54					0	0	0.013537	0	0
UTP6	55813	broad.mit.edu	37	17	30207635	30207635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:30207635C>A	ENST00000261708.4	-	11	1061	c.924G>T	c.(922-924)agG>agT	p.R308S	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	308					rRNA processing	nucleolus	binding	p.R308S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CAGCACAGCACCTCTCCTCCT	0.478000													53	231					1.33661e-31	2.49587e-31	0.014410	1	0
SPTA1	6708	broad.mit.edu	37	1	158609396	158609396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:158609396C>A	ENST00000368148.3	-	35	5136	c.4956G>T	c.(4954-4956)ttG>ttT	p.L1652F	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1652F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1652					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	p.L1652F(1)		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)					TCTCTCTCTCCAATAGCTGAT	0.483000													18	139					1.96895e-08	2.64205e-08	0.016522	1	0
MICAL3	57553	broad.mit.edu	37	22	18301586	18301586	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:18301586G>A	ENST00000441493.2	-	26	4193	c.3841C>T	c.(3841-3843)Cgc>Tgc	p.R1281C		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1281	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R1281C(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTGGAAGCGTATGGGGGAC	0.672000													15	100					0	0	0.004007	0	0
MUC17	140453	broad.mit.edu	37	7	100685523	100685523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100685523C>A	ENST00000306151.4	+	3	10890	c.10826C>A	c.(10825-10827)aCt>aAt	p.T3609N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3609	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3609N(1)		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)					CCTGTGACCACTTCTACTCAG	0.463000													23	189					1.04121e-07	1.35923e-07	0.005443	1	0
ASMT	438	broad.mit.edu	37	X	1755382	1755382	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:1755382G>T	ENST00000381241.3	+	8	1038	c.839G>T	c.(838-840)aGg>aTg	p.R280M	ASMT_ENST00000381229.4_Missense_Mutation_p.R252M|ASMT_ENST00000381233.3_Missense_Mutation_p.R205M	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	252					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	p.R280M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCTGGCCAGGGTCCTCCAT	0.552000													69	255					5.43229e-20	9.41271e-20	0.014410	1	0
A4GNT	51146	broad.mit.edu	37	3	137843529	137843529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:137843529G>T	ENST00000236709.3	-	3	801	c.600C>A	c.(598-600)caC>caA	p.H200Q		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	200					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.H200Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAAAGGGGTGGTGGGGGAGGA	0.493000													18	162					1.67942e-08	2.26407e-08	0.006122	1	0
CXorf66	347487	broad.mit.edu	37	X	139038299	139038299	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:139038299G>T	ENST00000370540.1	-	3	865	c.842C>A	c.(841-843)cCt>cAt	p.P281H		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	281						integral to membrane		p.P281H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ATTGACCAAAGGCCTATAAGT	0.398000													18	219					3.52763e-06	4.32154e-06	0.004990	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573608	140573608	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140573608G>T	ENST00000239446.4	+	1	1667	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		495	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.D495Y(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGCCCCAAGACCCGCACCT	0.672000													13	185					6.31663e-08	8.28339e-08	0.003163	1	0
ACE	1636	broad.mit.edu	37	17	61568578	61568578	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:61568578G>T	ENST00000577647.1	+	8	1071	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	ACE_ENST00000290866.4_Silent_p.T916T|ACE_ENST00000290863.6_Silent_p.T342T|ACE_ENST00000413513.3_Silent_p.T342T|ACE_ENST00000490216.2_Silent_p.T342T|ACE_ENST00000421982.2_Silent_p.T162T|ACE_ENST00000428043.1_Silent_p.T916T			P12821	ACE_HUMAN	angiotensin I converting enzyme	916	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.T916T(1)|p.T342T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCTGGACGCCCAGGAGGA	0.617000													16	54					0.006122	0.00651734	0.006122	1	0
PMFBP1	83449	broad.mit.edu	37	16	72188209	72188209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:72188209C>A	ENST00000537465.1	-	4	473	c.315G>T	c.(313-315)caG>caT	p.Q105H	PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q105H|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	105								p.Q105H(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGTAAGAAGTCTGCAACTCCT	0.458000													40	182					4.32679e-17	7.32129e-17	0.006999	1	0
KCNH7	90134	broad.mit.edu	37	2	163230172	163230172	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:163230172C>A	ENST00000332142.5	-	15	3231	c.3131_splice	c.e15-1	p.R1044_splice		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1044					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R1044S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGGATTCAAGCCTACAGAACA	0.423000													7	44					5.18039e-06	6.30609e-06	0.003080	1	0
LRRC6	23639	broad.mit.edu	37	8	133673705	133673705	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:133673705C>A	ENST00000519595.1	-	2	277		c.e2+1		LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm		p.?(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGAAACTTACCAATTTTCCC	0.318000													9	37					2.52707e-12	3.96228e-12	0.006214	1	0
RGAG4	340526	broad.mit.edu	37	X	71350872	71350872	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:71350872G>A	ENST00000545866.1	-	1	886	c.519C>T	c.(517-519)ttC>ttT	p.F173F	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.F173F			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	173								p.F246F(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGTCGGCTATGAAGGTCTCTA	0.602000													11	40					0	0	0.013537	0	0
MICAL3	57553	broad.mit.edu	37	22	18300618	18300618	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:18300618G>A	ENST00000441493.2	-	26	5161	c.4809C>T	c.(4807-4809)tcC>tcT	p.S1603S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1603						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1603S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTCTTCACGGACTTCTCCC	0.692000													6	25					0	0	0.001984	0	0
HK3	3101	broad.mit.edu	37	5	176308746	176308746	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:176308746C>T	ENST00000292432.5	-	17	2431	c.2340G>A	c.(2338-2340)caG>caA	p.Q780Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	780	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q780Q(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAAGGCGCTGGATCTGCT	0.542000													33	171					0	0	0.015359	0	0
CXorf56	63932	broad.mit.edu	37	X	118673720	118673720	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:118673720C>A	ENST00000320339.4	-	7	763	c.492G>T	c.(490-492)aaG>aaT	p.K164N	CXorf56_ENST00000476164.1_Missense_Mutation_p.K213N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K213N|CXorf56_ENST00000536133.1_Missense_Mutation_p.K199N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K213N|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	213							protein binding	p.K213N(1)		cervix(1)|endometrium(2)|lung(7)	10						TCAAGGTCCCCTTCATTTTCG	0.368000													7	57					0.00307968	0.00331525	0.003080	1	0
COL6A2	1292	broad.mit.edu	37	21	47542060	47542060	+	Silent	SNP	C	C	T	rs112197239	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:47542060C>T	ENST00000300527.4	+	19	1664	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	COL6A2_ENST00000310645.5_Silent_p.P520P|COL6A2_ENST00000397763.1_Silent_p.P520P|COL6A2_ENST00000357838.4_Silent_p.P520P|COL6A2_ENST00000409416.1_Silent_p.P520P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	520	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCAGGACCCCGAGGAGCAC	0.642000													3	35					0	0	0.004672	0	0
NDST4	64579	broad.mit.edu	37	4	115997479	115997479	+	Silent	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:115997479T>C	ENST00000264363.2	-	2	1392	c.714A>G	c.(712-714)ttA>ttG	p.L238L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	238	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L238L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTCTGTCTGTAACTCAGTTA	0.438000													24	132					0	0	0.004656	0	0
STK10	6793	broad.mit.edu	37	5	171479999	171479999	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:171479999C>A	ENST00000176763.5	-	18	3043	c.2700G>T	c.(2698-2700)aaG>aaT	p.K900N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	900							ATP binding|protein serine/threonine kinase activity	p.K900N(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCCAGGGCCTTCAGTTTCT	0.542000													17	66					3.62473e-10	5.13875e-10	0.012319	1	0
VCPKMT	79609	broad.mit.edu	37	14	50583010	50583010	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:50583010G>A	ENST00000395860.2	-	1	265	c.261C>T	c.(259-261)acC>acT	p.T87T	METTL21D_ENST00000395859.2_Silent_p.T87T	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN		87							methyltransferase activity	p.T87T(1)		kidney(1)|lung(1)|urinary_tract(1)	3						CTTACCCGAGGGTAGCAGCCA	0.687000													3	8					0	0	0.004672	0	0
PARP4	143	broad.mit.edu	37	13	25029154	25029154	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:25029154C>A	ENST00000381989.3	-	22	2864		c.e22+1			NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGCGCACTCACCTGTGCCGAA	0.532000													26	206					6.07407e-21	1.06852e-20	0.007291	1	0
PRPS1	5631	broad.mit.edu	37	X	106882646	106882646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:106882646G>A	ENST00000372435.4	+	2	366	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PRPS1_ENST00000372428.4_Missense_Mutation_p.A15T|PRPS1_ENST00000372418.1_Missense_Mutation_p.A15T|PRPS1_ENST00000372419.3_Missense_Mutation_p.A82T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A82T	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	82					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.A82T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GATTGCTTCAGCCAGCCGGGT	0.443000													39	315					0	0	0.009718	0	0
DRD2	1813	broad.mit.edu	37	11	113285168	113285168	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:113285168G>T	ENST00000362072.3	-	6	1083	c.739C>A	c.(739-741)Ccc>Acc	p.P247T	DRD2_ENST00000542968.1_Missense_Mutation_p.P247T|DRD2_ENST00000538967.1_Missense_Mutation_p.P247T|DRD2_ENST00000355319.2_Missense_Mutation_p.P247T|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.P246T|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	247	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.P247N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATGTCCTCGGGGTGAGTACAG	0.562000													42	208					9.14704e-12	1.38526e-11	0.008740	1	0
LRRC6	23639	broad.mit.edu	37	8	133673706	133673706	+	Splice_Site	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:133673706C>T	ENST00000519595.1	-	2	276	c.178_splice	c.e2+1	p.E60_splice	LRRC6_ENST00000250173.1_Splice_Site_p.E60_splice|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Splice_Site_p.E60_splice			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	60						cytoplasm		p.?(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAAACTTACCAATTTTCCCA	0.323000													9	36					0	0	0.006214	0	0
OR56A3	390083	broad.mit.edu	37	11	5969145	5969145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:5969145G>T	ENST00000329564.6	+	1	576	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R190I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGTTTCCAGACTCTCCTGC	0.473000													17	130					2.48551e-13	3.93994e-13	0.004990	1	0
FCRL3	115352	broad.mit.edu	37	1	157650837	157650837	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:157650837C>G	ENST00000368184.3	-	12	2182	c.1891G>C	c.(1891-1893)Gac>Cac	p.D631H	FCRL3_ENST00000368186.5_Missense_Mutation_p.D631H|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	631						integral to membrane|plasma membrane	receptor activity	p.D631H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTTGAGGGTCTATCCTGGAA	0.537000													5	56					0	0	0.014758	0	0
SPEF2	79925	broad.mit.edu	37	5	35659145	35659145	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:35659145A>T	ENST00000440995.2	+	8	1003	c.1003A>T	c.(1003-1005)Att>Ttt	p.I335F	SPEF2_ENST00000282469.6_Missense_Mutation_p.I335F|SPEF2_ENST00000356031.3_Missense_Mutation_p.I335F|SPEF2_ENST00000509059.1_Missense_Mutation_p.I335F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	335					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.I335F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAACAGCTGATTAACCGGCT	0.478000													4	28					0	0	0.004482	0	0
CT45A5	441521	broad.mit.edu	37	X	134947928	134947928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:134947928C>A	ENST00000370724.3	-	3	641	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CT45A5_ENST00000491480.1_Nonsense_Mutation_p.E133*|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	133								p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388000													21	177					5.35356e-11	7.84011e-11	0.016522	1	0
AVPR1A	552	broad.mit.edu	37	12	63544585	63544585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:63544585G>T	ENST00000299178.2	-	1	137	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	11					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.P11H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTTGCCCGAGGGCCCCGCGTC	0.731000													25	35					7.92952e-12	1.20721e-11	0.021523	1	0
CDH10	1008	broad.mit.edu	37	5	24491831	24491831	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:24491831C>T	ENST00000264463.4	-	11	2237	c.1730G>A	c.(1729-1731)aGc>aAc	p.S577N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	577	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S577N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCCTGTGCTGCTCTGAATTGG	0.488000										HNSCC(23;0.051)			7	86					0	0	0.003080	0	0
TCF7L1	83439	broad.mit.edu	37	2	85533621	85533621	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:85533621C>T	ENST00000282111.3	+	10	1471	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	399					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A399V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TACGAGCTGGCCCGGAAGGAG	0.612000													13	55					0	0	0.004990	0	0
SELP	6403	broad.mit.edu	37	1	169566244	169566244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:169566244G>T	ENST00000263686.6	-	11	1913	c.1876C>A	c.(1876-1878)Cca>Aca	p.P626T	SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P564T|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.P564T|SELP_ENST00000367788.2_Missense_Mutation_p.P564T|SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.P564T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	626	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P626T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTTGGTGGAGTAGCTGAC	0.398000													11	71					5.50884e-06	6.66373e-06	0.013537	1	0
SLC6A17	388662	broad.mit.edu	37	1	110738261	110738261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:110738261G>T	ENST00000331565.4	+	10	2031	c.1546G>T	c.(1546-1548)Gga>Tga	p.G516*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	516					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.G516*(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCAGCGCTCCGGAAACTACTT	0.572000													8	78					0.00448238	0.00480731	0.004482	1	0
RABL5	64792	broad.mit.edu	37	7	100958530	100958530	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100958530G>C	ENST00000517481.1	-	6	582	c.212C>G	c.(211-213)tCa>tGa	p.S71*	RABL5_ENST00000437644.2_Nonsense_Mutation_p.S118*|RABL5_ENST00000315322.4_Nonsense_Mutation_p.S148*|RABL5_ENST00000498704.2_Nonsense_Mutation_p.S71*|RABL5_ENST00000495166.1_5'UTR			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	148							GTP binding	p.S148*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TTCCAGGTTTGAGTGCACCAG	0.443000											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	118					0	0	0.010729	0	0
TEX11	56159	broad.mit.edu	37	X	69849576	69849576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:69849576G>T	ENST00000395889.2	-	19	1693	c.1538C>A	c.(1537-1539)gCa>gAa	p.A513E	TEX11_ENST00000374320.2_Missense_Mutation_p.A188E|TEX11_ENST00000374333.2_Missense_Mutation_p.A498E|TEX11_ENST00000344304.3_Missense_Mutation_p.A513E	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	513							protein binding	p.A498E(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAATTATTGCCTGCAAAGC	0.313000													5	62					0.000602214	0.000668226	0.014758	1	0
FLII	2314	broad.mit.edu	37	17	18150366	18150366	+	Splice_Site	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:18150366C>G	ENST00000327031.4	-	22	2902	c.2676_splice	c.e22-1	p.A893_splice	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Splice_Site_p.A882_splice|FLII_ENST00000379450.4_Splice_Site_p.A807_splice|FLII_ENST00000545457.2_Splice_Site_p.A838_splice	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	893	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	p.A893P(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGCTGCTCCGCCTGCAGGTGA	0.706000													8	55					0	0	0.016723	0	0
OR51E1	143503	broad.mit.edu	37	11	4674576	4674576	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:4674576C>T	ENST00000396952.5	+	2	1470	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	OR51E1_ENST00000530215.1_Silent_p.R50R	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L273L(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACTCTCCGCTGCCCGTCAT	0.498000													29	176					0	0	0.007291	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821792	5821792	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:5821792C>T	ENST00000381095.3	-	5	1554	c.927G>A	c.(925-927)ctG>ctA	p.L309L	NLGN4X_ENST00000381092.1_Silent_p.L309L|NLGN4X_ENST00000381093.2_Silent_p.L329L|NLGN4X_ENST00000538097.1_Silent_p.L309L|NLGN4X_ENST00000275857.6_Silent_p.L309L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	309					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.L309L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCGTGGTGTCCAGCATGTTGC	0.592000													24	102					0	0	0.005443	0	0
PLCB4	5332	broad.mit.edu	37	20	9416206	9416206	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:9416206G>T	ENST00000378501.2	+	25	2503		c.e25-1		PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.?(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTCCCCTAGATATCGTGGA	0.348000													8	63					0.000274275	0.000310307	0.004482	1	0
COL4A2	1284	broad.mit.edu	37	13	111132690	111132690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:111132690C>A	ENST00000360467.5	+	31	3017	c.2711C>A	c.(2710-2712)cCt>cAt	p.P904H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	904	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P904H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCAGGAAGCCCTGGATTTAAA	0.577000													12	123					3.27435e-08	4.36328e-08	0.020292	1	0
GCH1	2643	broad.mit.edu	37	14	55310797	55310797	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:55310797A>T	ENST00000491895.2	-	6	879	c.691T>A	c.(691-693)Ttg>Atg	p.L231M	GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Missense_Mutation_p.L231M|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000543643.2_Intron	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	231					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	p.L231M(1)		endometrium(2)|lung(7)|skin(2)	11						AACACACCCAACATTGTGCTG	0.463000													18	170					0	0	0.006122	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350211	51350211	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr15:51350211A>T	ENST00000327536.5	-	3	845	c.746T>A	c.(745-747)aTc>aAc	p.I249N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	249								p.I249N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GACGTGGTTGATGCGCCCGTG	0.552000													12	51					0	0	0.013537	0	0
SEPT6	23157	broad.mit.edu	37	X	118771019	118771019	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:118771019C>T	ENST00000394610.1	-	7	1191	c.927G>A	c.(925-927)aaG>aaA	p.K309K	SEPT6_ENST00000394617.2_Silent_p.K339K|SEPT6_ENST00000354228.4_Silent_p.K309K|SEPT6_ENST00000360156.7_Silent_p.K309K|SEPT6_ENST00000354416.3_Silent_p.K309K|SEPT6_ENST00000489216.1_Silent_p.K309K|SEPT6_ENST00000343984.5_Silent_p.K309K|SEPT6_ENST00000394616.4_Silent_p.K251K	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	309					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.K309K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTCGGTGTCCTTGAAGCCCA	0.612000			T	MLL	AML								10	85					0	0	0.013537	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706764	26706764	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:26706764A>T	ENST00000529632.2	+	7	1839	c.1643A>T	c.(1642-1644)cAg>cTg	p.Q548L	SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q548L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q321L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q321L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q548L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	548	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.Q548L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACGTCCGACCAGGCCCGGGCG	0.597000													13	140					0	0	0.004990	0	0
FAT4	79633	broad.mit.edu	37	4	126372425	126372425	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:126372425A>T	ENST00000394329.3	+	9	10267	c.10254A>T	c.(10252-10254)ccA>ccT	p.P3418P	FAT4_ENST00000335110.5_Silent_p.P1716P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3418	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P3418P(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						AAGGGGTCCCAATAGGAACTC	0.453000													37	220					0	0	0.019004	0	0
OR4D11	219986	broad.mit.edu	37	11	59271767	59271767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:59271767G>T	ENST00000313253.1	+	1	719	c.719G>T	c.(718-720)tGc>tTc	p.C240F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C240F(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCTCCACTTGCACCTCCCAC	0.552000													37	320					1.58521e-26	2.8763e-26	0.023175	1	0
LRBA	987	broad.mit.edu	37	4	151792559	151792559	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:151792559C>A	ENST00000535741.1	-	19	2778	c.2305G>T	c.(2305-2307)Gct>Tct	p.A769S	LRBA_ENST00000357115.3_Missense_Mutation_p.A769S|LRBA_ENST00000510413.1_Missense_Mutation_p.A769S|LRBA_ENST00000507224.1_Missense_Mutation_p.A769S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	769						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.A769S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCCTTTCAGCTAGCAATGAA	0.363000													33	179					1.04352e-10	1.50152e-10	0.017118	1	0
MYOCD	93649	broad.mit.edu	37	17	12666878	12666878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:12666878C>A	ENST00000425538.1	+	14	3078	c.2878C>A	c.(2878-2880)Ccc>Acc	p.P960T	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.P912T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	912					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P960T(1)|p.P912T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACCAGCAGCCCCAGCATCTT	0.517000													11	60					1.58986e-06	1.97705e-06	0.008291	1	0
REG3A	5068	broad.mit.edu	37	2	79385822	79385822	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:79385822G>C	ENST00000393878.1	-	2	404	c.150C>G	c.(148-150)caC>caG	p.H50Q	REG3A_ENST00000409839.3_Missense_Mutation_p.H50Q|REG3A_ENST00000305165.2_Missense_Mutation_p.H50Q|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	50	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.H50Q(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGGCATAGCAGTGGGAGCCAT	0.572000													5	61					0	0	0.014758	0	0
OR10K2	391107	broad.mit.edu	37	1	158390597	158390597	+	Silent	SNP	C	C	A	rs138054803		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:158390597C>A	ENST00000314902.2	-	1	59	c.60G>T	c.(58-60)ctG>ctT	p.L20L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L20L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCAGCCTGGCCAGGGATGAGA	0.522000													8	40					3.86212e-05	4.48379e-05	0.008291	1	0
ODF1	4956	broad.mit.edu	37	8	103573108	103573108	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:103573108T>C	ENST00000285402.3	+	2	905	c.749T>C	c.(748-750)tTg>tCg	p.L250S	ODF1_ENST00000518835.1_Missense_Mutation_p.L43S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	250					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.L250S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGATGATTTTGTAAAGTGCG	0.517000													17	228					0	0	0.006122	0	0
PTH	5741	broad.mit.edu	37	11	13514017	13514017	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:13514017C>T	ENST00000282091.1	-	3	397	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	PTH_ENST00000529816.1_Missense_Mutation_p.E95K	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	95					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	p.E95K(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AGACTTTTTTCATGGCTCTCA	0.438000													11	62					0	0	0.008291	0	0
KRT6B	3854	broad.mit.edu	37	12	52841600	52841600	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:52841600G>A	ENST00000252252.3	-	7	1433	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	462	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.I462I(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGTAGGTGGCGATCTCCACAT	0.612000													13	186					0	0	0.020292	0	0
IL31RA	133396	broad.mit.edu	37	5	55212479	55212479	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:55212479T>A	ENST00000396834.1	+	17	2265	c.1769T>A	c.(1768-1770)cTa>cAa	p.L590Q	IL31RA_ENST00000354961.4_Missense_Mutation_p.L590Q|IL31RA_ENST00000447346.2_Missense_Mutation_p.L609Q|IL31RA_ENST00000359040.5_Missense_Mutation_p.L609Q|IL31RA_ENST00000490985.1_Missense_Mutation_p.L467Q	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	577					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	p.L609Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGGATAAGCTAAACCTGAAG	0.448000													23	136					0	0	0.009535	0	0
HIP1	3092	broad.mit.edu	37	7	75189162	75189162	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:75189162C>T	ENST00000336926.6	-	14	1275	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	HIP1_ENST00000434438.2_Missense_Mutation_p.A417T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	417	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.A417T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGCTCGGCCAGATCTGCT	0.672000			T	PDGFRB	CMML								3	11					0	0	0.001984	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79063993	79063993	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr15:79063993G>A	ENST00000388820.4	-	15	2520	c.2310C>T	c.(2308-2310)taC>taT	p.Y770Y	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y770Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCCTGCGTGCGTATGTGAAGG	0.657000													4	37					0	0	0.009096	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790348	65790348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:65790348C>A	ENST00000312106.5	-	2	1538	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	467					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.Q467H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGCGAAGGTCTGGGCCACCA	0.577000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	118					5.9392e-07	7.51517e-07	0.021553	1	0
JPH3	57338	broad.mit.edu	37	16	87678552	87678552	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:87678552C>G	ENST00000284262.2	+	2	1313	c.1071C>G	c.(1069-1071)agC>agG	p.S357R		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	357					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.S357R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCGGGCCAGCAAGATCCGCG	0.662000													3	58					0	0	0.004672	0	0
ATP11A	23250	broad.mit.edu	37	13	113527887	113527887	+	Splice_Site	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:113527887C>G	ENST00000487903.1	+	27	3146	c.3057_splice	c.e27-1	p.L1020_splice	ATP11A_ENST00000375645.3_Splice_Site_p.L1020_splice|ATP11A_ENST00000283558.8_Splice_Site_p.L1020_splice|ATP11A_ENST00000375630.2_Splice_Site_p.L1020_splice			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1020					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1020V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCCTTTTAGCTTGCATTGGA	0.488000											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	98					0	0	0.004990	0	0
GLRA3	8001	broad.mit.edu	37	4	175636673	175636673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:175636673C>A	ENST00000274093.3	-	5	1042	c.540G>T	c.(538-540)atG>atT	p.M180I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M180I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	180					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.M180I(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTTGTACATCCATGGGAAAAT	0.274000													6	62					5.18039e-06	6.30609e-06	0.003080	1	0
MRC2	9902	broad.mit.edu	37	17	60765739	60765739	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:60765739C>T	ENST00000303375.5	+	21	3438	c.3036C>T	c.(3034-3036)gtC>gtT	p.V1012V	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1012	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding	p.V1012V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGCTGGTCACCATCACAA	0.582000													20	90					0	0	0.010504	0	0
RLIM	51132	broad.mit.edu	37	X	73812218	73812218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:73812218C>A	ENST00000332687.6	-	4	1150	c.932G>T	c.(931-933)gGa>gTa	p.G311V	RLIM_ENST00000349225.2_Missense_Mutation_p.G311V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	311					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G311V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTCCTGATCCTGTAGATTC	0.478000													5	57					3.59834e-05	4.21144e-05	0.021553	1	0
ZNF618	114991	broad.mit.edu	37	9	116811997	116811997	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:116811997C>T	ENST00000288466.7	+	14	2235	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.A805A	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A722A(1)|p.A805A(1)|p.A712A(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACAAGGTGGCCATGATCCTGG	0.617000													12	47					0	0	0.013537	0	0
PLCD4	84812	broad.mit.edu	37	2	219495489	219495489	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:219495489G>A	ENST00000450993.2	+	9	1575	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	PLCD4_ENST00000417849.1_Silent_p.L412L|PLCD4_ENST00000432688.1_Silent_p.L412L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	412	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L412L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCACCACCTTGGATGGGGTGC	0.637000													6	52					0	0	0.021553	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958429	57958429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:57958429C>A	ENST00000311591.3	+	1	524	c.467C>A	c.(466-468)gCc>gAc	p.A156D		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156D(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TTTTTCAGTGCCTTTGTTCGA	0.502000													18	105					5.03518e-11	7.39262e-11	0.007413	1	0
CNTN5	53942	broad.mit.edu	37	11	99932110	99932110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:99932110C>A	ENST00000524871.1	+	10	1437	c.1147C>A	c.(1147-1149)Caa>Aaa	p.Q383K	CNTN5_ENST00000418526.2_Missense_Mutation_p.Q309K|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q383K|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q383K|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q383K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	383	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Q383K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTTCGTGGACAATTACAAGT	0.383000													14	39					9.05144e-12	1.37439e-11	0.016723	1	0
HGF	3082	broad.mit.edu	37	7	81335060	81335060	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:81335060G>T	ENST00000222390.5	-	16	1993	c.1767C>A	c.(1765-1767)gtC>gtA	p.V589V	HGF_ENST00000457544.2_Silent_p.V584V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	589	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	p.V589V(1)		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						AATCATCCAGGACAGCAGGCC	0.363000													8	76					3.09899e-07	3.96478e-07	0.004482	1	0
RYR2	6262	broad.mit.edu	37	1	237794761	237794761	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:237794761C>A	ENST00000366574.2	+	42	6792	c.6475C>A	c.(6475-6477)Cct>Act	p.P2159T	RYR2_ENST00000360064.6_Missense_Mutation_p.P2157T|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2159	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	p.P2157S(1)		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)			TTACCAGCACCCTAATCTCAT	0.453000													12	42					4.36969e-10	6.14954e-10	0.016723	1	0
FLT4	2324	broad.mit.edu	37	5	180048156	180048156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:180048156G>T	ENST00000261937.6	-	14	2195	c.2117C>A	c.(2116-2118)gCg>gAg	p.A706E	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A706E|FLT4_ENST00000502649.1_Missense_Mutation_p.A706E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	706	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A706E(2)|p.A516E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCTGGGCGCGTGCGCTCC	0.667000													8	58					2.17888e-05	2.58154e-05	0.006214	1	0
CILP2	148113	broad.mit.edu	37	19	19655874	19655874	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:19655874C>A	ENST00000586018.1	+	8	2640	c.2538C>A	c.(2536-2538)gaC>gaA	p.D846E	CILP2_ENST00000291495.4_Missense_Mutation_p.D840E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	840						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.D840E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACCTGGACAGGCTGGGGT	0.721000													10	23					0.00010058	0.000115377	0.013537	1	0
PFKFB3	5209	broad.mit.edu	37	10	6268204	6268204	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:6268204C>T	ENST00000379775.4	+	14	1721	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Missense_Mutation_p.P464L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P464L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P478L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P444L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P464L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.P464L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	464	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.P464Q(2)|p.P464L(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGTGTCACCCCGCTAGCCAGC	0.577000													10	74					0	0	0.004990	0	0
SLN	6588	broad.mit.edu	37	11	107578577	107578577	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:107578577C>A	ENST00000531293.1	-	3	432	c.80G>T	c.(79-81)aGg>aTg	p.R27M	SLN_ENST00000305991.2_Missense_Mutation_p.R27M|SLN_ENST00000525934.1_Missense_Mutation_p.R27M			O00631	SARCO_HUMAN	sarcolipin	27					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity	p.R27M(1)		large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		CTGATAGGACCTCACAAGGAG	0.512000													8	79					1.06961e-07	1.39002e-07	0.003080	1	0
C4orf21	55345	broad.mit.edu	37	4	113506721	113506721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:113506721C>A	ENST00000505019.1	-	14	4202	c.4077G>T	c.(4075-4077)atG>atT	p.M1359I		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.M1359I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCTTTTTAACCATGACAAGTT	0.363000													5	30					0.014758	0.0153985	0.014758	1	0
KCNE1L	23630	broad.mit.edu	37	X	108867958	108867958	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:108867958A>T	ENST00000372101.2	-	1	435	c.292T>A	c.(292-294)Tgc>Agc	p.C98S	RP1-136J15.3_ENST00000439581.1_RNA	NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	98					regulation of heart contraction	voltage-gated potassium channel complex		p.C98S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGCTCGGCGCAAGCCTGGGAC	0.721000													3	25					0	0	0.014758	0	0
CPA3	1359	broad.mit.edu	37	3	148586769	148586769	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:148586769G>A	ENST00000296046.3	+	3	264	c.212G>A	c.(211-213)aGt>aAt	p.S71N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	71					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S71N(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTCCGAGTTAGTGAGAAGGAA	0.418000													7	69					0	0	0.001984	0	0
PON3	5446	broad.mit.edu	37	7	95001637	95001637	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:95001637G>A	ENST00000265627.5	-	4	225	c.215C>T	c.(214-216)cCa>cTa	p.P72L	PON3_ENST00000427422.1_Missense_Mutation_p.P72L|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3									p.P72L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGCATGCCTGGATATTTTAA	0.348000													11	93					0	0	0.010729	0	0
CNTN1	1272	broad.mit.edu	37	12	41337888	41337888	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:41337888C>A	ENST00000551295.2	+	14	1716	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	CNTN1_ENST00000360099.3_Silent_p.A533A|CNTN1_ENST00000547849.1_Silent_p.A533A|CNTN1_ENST00000347616.1_Silent_p.A533A|CNTN1_ENST00000348761.2_Silent_p.A522A|CNTN1_ENST00000547702.1_Silent_p.A533A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	533	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.A533A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGATCCTGCCTTGGATCTCA	0.393000													22	50					1.50039e-11	2.24864e-11	0.012319	1	0
GOLGA3	2802	broad.mit.edu	37	12	133360732	133360732	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:133360732C>G	ENST00000545875.1	-	16	3505	c.3285G>C	c.(3283-3285)ctG>ctC	p.L1095L	GOLGA3_ENST00000456883.2_Intron|GOLGA3_ENST00000450791.2_Intron|GOLGA3_ENST00000204726.3_Intron|GOLGA3_ENST00000537452.1_Silent_p.L1095L	NM_001172557.1	NP_001166028.1	Q08378	GOGA3_HUMAN	golgin A3	0					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.L1095L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCGCCACAGCAGATGGCCAG	0.627000													6	39					0	0	0.001984	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124226	142124226	+	RNA	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:142124226G>A	ENST00000390376.2	-	0	251																											TTAATCTAGAGACATTGTAGC	0.522000													27	227					0	0	0.009718	0	0
USP6NL	9712	broad.mit.edu	37	10	11531201	11531201	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:11531201C>A	ENST00000379237.1	-	10	958	c.564G>T	c.(562-564)ggG>ggT	p.G188G	USP6NL_ENST00000277575.5_Silent_p.G205G	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	188	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G205G(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCTGGCTCATCCCCTGACAAT	0.483000													30	72					1.06801e-11	1.6132e-11	0.009535	1	0
SETBP1	26040	broad.mit.edu	37	18	42530897	42530897	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:42530897G>T	ENST00000282030.5	+	4	1888	c.1592G>T	c.(1591-1593)aGg>aTg	p.R531M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	531						nucleus	DNA binding	p.R477M(1)|p.R531M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAAAACGAAGGTGGACTTGC	0.517000									Schinzel-Giedion syndrome				44	179					2.52991e-16	4.24348e-16	0.014410	1	0
RGS13	6003	broad.mit.edu	37	1	192613472	192613472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:192613472G>T	ENST00000391995.2	+	4	296	c.8G>T	c.(7-9)aGg>aTg	p.R3M	RGS13_ENST00000543215.1_Missense_Mutation_p.R3M	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	3						plasma membrane	GTPase activator activity|signal transducer activity	p.R3M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AAAATGAGCAGGCGGAATTGT	0.289000													23	147					7.38237e-10	1.03389e-09	0.006320	1	0
C1orf186	440712	broad.mit.edu	37	1	206239421	206239421	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:206239421A>T	ENST00000331555.5	-	6	1115	c.477T>A	c.(475-477)ccT>ccA	p.P159P		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	159						integral to membrane		p.P159P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACAGAGCAGGGTTGACAA	0.403000													29	100					0	0	0.019004	0	0
OR2T2	401992	broad.mit.edu	37	1	248616384	248616384	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:248616384C>T	ENST00000342927.3	+	1	308	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L96L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CATTTCCTTCCTGGGCTGTGC	0.527000													24	341					0	0	0.005443	0	0
PLCD3	113026	broad.mit.edu	37	17	43195505	43195505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:43195505C>A	ENST00000322765.5	-	7	1229	c.1116G>T	c.(1114-1116)agG>agT	p.R372S	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	372	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R372S(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GGGCAAAGGCCCTGTGTGTGG	0.657000													9	54					0.000978159	0.00108122	0.010729	1	0
PCDH11X	27328	broad.mit.edu	37	X	91642839	91642839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:91642839G>T	ENST00000373094.1	+	5	4095	c.3250G>T	c.(3250-3252)Ggc>Tgc	p.G1084C	PCDH11X_ENST00000373088.1_Missense_Mutation_p.G1047C|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G1074C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1084C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G1047C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G1074C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1084					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G1084C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACATCTCATGGCCTGCCCCT	0.552000													12	78					4.36969e-10	6.14954e-10	0.016723	1	0
DRD2	1813	broad.mit.edu	37	11	113285167	113285167	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:113285167G>T	ENST00000362072.3	-	6	1084	c.740C>A	c.(739-741)cCc>cAc	p.P247H	DRD2_ENST00000542968.1_Missense_Mutation_p.P247H|DRD2_ENST00000538967.1_Missense_Mutation_p.P247H|DRD2_ENST00000355319.2_Missense_Mutation_p.P247H|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.P246H|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	247	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.P247N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CATGTCCTCGGGGTGAGTACA	0.557000													40	212					3.78316e-11	5.58282e-11	0.006230	1	0
BAGE2	85319	broad.mit.edu	37	21	11098888	11098888	+	RNA	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:11098888G>T	ENST00000470054.1	-	0	37									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)		ggtcctctaagccgggaacag	0.607000													4	25					0.00909568	0.00955958	0.009096	1	0
PAK7	57144	broad.mit.edu	37	20	9523281	9523281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:9523281C>A	ENST00000378429.3	-	10	2502	c.1956G>T	c.(1954-1956)atG>atT	p.M652I	PAK7_ENST00000378423.1_Missense_Mutation_p.M652I|PAK7_ENST00000353224.5_Missense_Mutation_p.M652I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	652	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.M652I(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGATCCTCCGCATCGCCTGGA	0.512000													23	137					9.95505e-16	1.66013e-15	0.014323	1	0
WSCD1	23302	broad.mit.edu	37	17	5993675	5993675	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:5993675G>C	ENST00000574946.1	+	4	967	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	WSCD1_ENST00000573634.1_Missense_Mutation_p.E77Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.E193Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.E193Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.E193Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	193	WSC 1.					integral to membrane	sulfotransferase activity	p.E193Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCCGGGGCGGAGTGTTACTG	0.647000													4	47					0	0	0.008291	0	0
UNC13C	440279	broad.mit.edu	37	15	54914593	54914593	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr15:54914593G>A	ENST00000545554.1	+	30	6175	c.6175G>A	c.(6175-6177)Gga>Aga	p.G2059R	UNC13C_ENST00000537900.1_Missense_Mutation_p.G2057R|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.G2059R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2059	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2059R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCAGGAACGGGAGATCATAA	0.443000													17	52					0	0	0.007413	0	0
FOXI1	2299	broad.mit.edu	37	5	169535126	169535126	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:169535126G>C	ENST00000306268.6	+	2	709	c.648G>C	c.(646-648)agG>agC	p.R216S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	216					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.R216S(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGAAAAGGAAGAGAAAAT	0.498000									Pendred syndrome				15	129					0	0	0.004007	0	0
GPR112	139378	broad.mit.edu	37	X	135432071	135432071	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:135432071C>A	ENST00000394143.1	+	6	6497	c.6206C>A	c.(6205-6207)aCc>aAc	p.T2069N	GPR112_ENST00000370652.1_Missense_Mutation_p.T2069N|GPR112_ENST00000287534.4_Missense_Mutation_p.T2006N|GPR112_ENST00000412101.1_Missense_Mutation_p.T1864N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1864N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2069					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T2069N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCATACTCACCCGAACCATT	0.443000													17	186					7.07596e-05	8.16566e-05	0.006122	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	51					0	0	0.001984	0	0
FYCO1	79443	broad.mit.edu	37	3	46006595	46006595	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:46006595C>A	ENST00000296137.2	-	9	3285	c.3080G>T	c.(3079-3081)aGc>aTc	p.S1027I	FYCO1_ENST00000535325.1_Missense_Mutation_p.S1027I	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1027					transport	integral to membrane	metal ion binding|protein binding	p.S1027I(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCCCCTGAGGCTCTTGCACTC	0.562000													5	56					0.00116845	0.00127447	0.021553	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072787	34072787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:34072787C>A	ENST00000254466.6	-	6	1756	c.1729G>T	c.(1729-1731)Gac>Tac	p.D577Y	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D561Y	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	577					cell cycle arrest	cytoplasm|cytoskeleton		p.D577Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCCCAGGTCCCAGGACTCT	0.617000													29	87					5.61819e-17	9.451e-17	0.005443	1	0
CCDC108	255101	broad.mit.edu	37	2	219896345	219896345	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:219896345C>T	ENST00000341552.5	-	7	764	c.681G>A	c.(679-681)gcG>gcA	p.A227A	CCDC108_ENST00000409865.3_Silent_p.A216A|CCDC108_ENST00000410037.1_Silent_p.A162A|CCDC108_ENST00000453220.1_Silent_p.A227A|CCDC108_ENST00000441968.1_Silent_p.A227A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	227						integral to membrane	structural molecule activity	p.A227A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCCCCTCCGCTTTCTCAA	0.627000													36	159					0	0	0.019004	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763908	110763908	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:110763908C>A	ENST00000368919.3	-	4	788	c.722G>T	c.(721-723)tGg>tTg	p.W241L	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.W207L|SLC22A16_ENST00000439654.1_Missense_Mutation_p.W241L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	241					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.W241L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GACAGACGCCCATGTCCGAGA	0.453000													20	79					4.35082e-09	5.97719e-09	0.010504	1	0
NOVA1	4857	broad.mit.edu	37	14	26917950	26917950	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:26917950T>A	ENST00000539517.2	-	5	1056	c.739A>T	c.(739-741)Agt>Tgt	p.S247C	NOVA1_ENST00000465357.2_Missense_Mutation_p.S223C|NOVA1_ENST00000267422.7_Missense_Mutation_p.S125C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	250					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.S247C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGCCACTTTGTGGATCC	0.448000													29	119					0	0	0.007835	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864687	160864687	+	Missense_Mutation	SNP	G	G	T	rs9365165		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:160864687G>T	ENST00000392145.1	+	9	1453	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C	SLC22A3_ENST00000275300.2_Missense_Mutation_p.G475C			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	475						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.G475C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GCTCTGTTCAGGTCTGTGTGA	0.388000													8	88					2.74318e-10	3.92758e-10	0.006214	1	0
CFH	3075	broad.mit.edu	37	1	196621179	196621179	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:196621179C>A	ENST00000367429.4	+	0	172				CFH_ENST00000439155.2_De_novo_Start_OutOfFrame	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCACAATTCTTGGAAGAGG	0.368000													3	29					0.004672	0.00498289	0.004672	1	0
CYYR1	116159	broad.mit.edu	37	21	27945240	27945240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:27945240G>T	ENST00000299340.4	-	1	363	c.20C>A	c.(19-21)cCc>cAc	p.P7H	CYYR1_ENST00000435845.2_Missense_Mutation_p.P115H|CYYR1_ENST00000400043.3_Missense_Mutation_p.P7H	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	7						integral to membrane		p.P7H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TGGACGCACGGGTAGCCTCGG	0.662000													11	72					3.07112e-06	3.77029e-06	0.010729	1	0
OR5B3	441608	broad.mit.edu	37	11	58170573	58170573	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:58170573C>A	ENST00000309403.2	-	1	309	c.310G>T	c.(310-312)Gct>Tct	p.A104S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A104S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGGCAAAAGCTACAAAGATA	0.453000													25	112					1.66031e-10	2.38307e-10	0.021523	1	0
OR6K6	128371	broad.mit.edu	37	1	158725239	158725239	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:158725239G>T	ENST00000368144.2	+	1	730	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V212L(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCACACCTGTGCTGAGCTT	0.493000													11	87					3.86212e-05	4.48379e-05	0.008291	1	0
NRK	203447	broad.mit.edu	37	X	105150543	105150543	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:105150543A>G	ENST00000428173.2	+	11	1285	c.982A>G	c.(982-984)Agg>Ggg	p.R328G	NRK_ENST00000243300.9_Missense_Mutation_p.R328G			Q7Z2Y5	NRK_HUMAN	Nik related kinase	328							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R328G(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTCATTAACAAGGCATCTTAC	0.303000										HNSCC(51;0.14)			2	6					0	0	0.004672	0	0
CCDC54	84692	broad.mit.edu	37	3	107096514	107096514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:107096514C>A	ENST00000261058.1	+	1	327	c.80C>A	c.(79-81)tCt>tAt	p.S27Y		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	27								p.S27Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTCAGACAGTCTCTTAAAAAT	0.398000													45	157					5.34276e-22	9.42743e-22	0.014410	1	0
CSMD1	64478	broad.mit.edu	37	8	2855596	2855596	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:2855596C>T	ENST00000520002.1	-	55	8872	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2715S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2773S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2715S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2714S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2772S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2773	Sushi 19.					integral to membrane		p.G2501S(1)|p.G2772S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGACACGCCCTGCAGCAAA	0.562000													20	79					0	0	0.012319	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765635	77765635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:77765635C>A	ENST00000521891.2	+	10	6926	c.6478C>A	c.(6478-6480)Cag>Aag	p.Q2160K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2134K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2115K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2115K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q2144K(1)		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)			AGAACAGATCCAGGAAATGGC	0.378000										HNSCC(33;0.089)			9	118					0.000442599	0.000494922	0.006214	1	0
TMEM181	57583	broad.mit.edu	37	6	159028287	159028287	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:159028287G>C	ENST00000367090.3	+	8	1007	c.996G>C	c.(994-996)gcG>gcC	p.A332A		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	332					pathogenesis	integral to membrane	toxin binding	p.A332A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GCCTGTTTGCGCATTCCCTCC	0.532000													14	87					0	0	0.003163	0	0
IL36B	27177	broad.mit.edu	37	2	113785526	113785526	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:113785526C>A	ENST00000327407.2	-	5	535	c.428G>T	c.(427-429)aGa>aTa	p.R143I	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	89					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.R143I(1)		kidney(1)|ovary(1)|pancreas(1)	3						AGTTATGCCTCTCTCCTTGGT	0.473000													23	95					1.36565e-18	2.33129e-18	0.016522	1	0
C1QB	713	broad.mit.edu	37	1	22986035	22986035	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:22986035T>G	ENST00000509305.1	+	2	426	c.80T>G	c.(79-81)cTc>cGc	p.L27R	C1QB_ENST00000314933.6_Missense_Mutation_p.L29R			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	29					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.L29R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGCCCAGCTCAGCTGCACC	0.607000													9	77					0	0	0.004482	0	0
EPT1	85465	broad.mit.edu	37	2	26587740	26587740	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:26587740C>T	ENST00000260585.7	+	3	286	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	56					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	p.S56F(1)									ATAACTTTTTCTGGCTTTCTG	0.318000													14	61					0	0	0.008871	0	0
PCDH10	57575	broad.mit.edu	37	4	134071779	134071779	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:134071779A>T	ENST00000264360.4	+	1	1310	c.484A>T	c.(484-486)Acc>Tcc	p.T162S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	162	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T162S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTACGAGATCACCCCCAACAG	0.622000													18	115					0	0	0.007413	0	0
C4orf36	132989	broad.mit.edu	37	4	87808958	87808958	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:87808958C>G	ENST00000473559.1	-	7	972	c.309G>C	c.(307-309)ctG>ctC	p.L103L	C4orf36_ENST00000295898.3_Silent_p.L103L			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	103								p.L103L(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		GCCTTTCCCTCAGGAGAAGCT	0.413000													13	63					0	0	0.016723	0	0
ABCB1	5243	broad.mit.edu	37	7	87144598	87144598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:87144598G>T	ENST00000265724.3	-	26	3648	c.3231C>A	c.(3229-3231)agC>agA	p.S1077R	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S1013R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1077	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.S1077R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGACCACTGTGCTCTTCCCAC	0.572000													5	44					1.23904e-05	1.48325e-05	0.014758	1	0
PCDH8	5100	broad.mit.edu	37	13	53422541	53422541	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:53422541A>T	ENST00000377942.3	-	1	234	c.31T>A	c.(31-33)Tgc>Agc	p.C11S	PCDH8_ENST00000338862.4_Missense_Mutation_p.C11S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	11					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.C11S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGAAAAGGCAGGGGCTGCCC	0.602000													10	84					0	0	0.010729	0	0
CDH8	1006	broad.mit.edu	37	16	61851398	61851398	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:61851398G>A	ENST00000577390.1	-	7	2216	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I	CDH8_ENST00000299345.6_Missense_Mutation_p.T421I|CDH8_ENST00000584337.1_Missense_Mutation_p.T421I|CDH8_ENST00000577730.1_Missense_Mutation_p.T421I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	421	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T421I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGACTGGAAGTGATATCAGG	0.433000													7	43					0	0	0.003080	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271365	36271365	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:36271365G>C	ENST00000007510.4	+	8	811	c.667G>C	c.(667-669)Gat>Cat	p.D223H	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.D223H|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.D87H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	223	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.D223H(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ACCCACAGAGGATCGGAGCTG	0.667000													4	37					0	0	0.014758	0	0
GKN1	56287	broad.mit.edu	37	2	69206066	69206066	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:69206066G>T	ENST00000377938.2	+	4	373	c.310G>T	c.(310-312)Gtc>Ttc	p.V104F		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	104	BRICHOS.				digestion|positive regulation of cell division	extracellular region		p.V104F(1)		breast(2)|large_intestine(4)|lung(5)	11						GAACAAGGAAGTCATGCCCTC	0.408000													13	68					3.45872e-05	4.06452e-05	0.004007	1	0
MIOS	54468	broad.mit.edu	37	7	7613232	7613232	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:7613232G>C	ENST00000340080.4	+	4	1547	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	MIOS_ENST00000405785.1_Missense_Mutation_p.E376Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	376								p.E376Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATTTATATGAATGTACGGA	0.393000													22	130					0	0	0.012319	0	0
TNR	7143	broad.mit.edu	37	1	175362956	175362956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:175362956G>T	ENST00000367674.1	-	6	2024	c.1316C>A	c.(1315-1317)tCa>tAa	p.S439*	TNR_ENST00000263525.2_Nonsense_Mutation_p.S439*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	439	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S439*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAAGGAAAATGAGAAGGGCTC	0.458000													47	281					9.90819e-18	1.68148e-17	0.014410	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055839	40055839	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:40055839G>T	ENST00000336649.4	+	17	2604	c.2604G>T	c.(2602-2604)gtG>gtT	p.V868V	CACNA1I_ENST00000407673.1_Silent_p.V827V|CACNA1I_ENST00000404898.1_Silent_p.V827V|CACNA1I_ENST00000400164.3_Silent_p.V827V|CACNA1I_ENST00000402142.3_Silent_p.V862V|CACNA1I_ENST00000401624.1_Silent_p.V862V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	862					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.V862V(1)|p.V827V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCATCCTGGTGGAGGGCTTCC	0.622000													13	97					7.03913e-09	9.60183e-09	0.013537	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47251938	47251938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:47251938G>C	ENST00000296861.2	-	3	1372	c.979C>G	c.(979-981)Ccc>Gcc	p.P327A		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	327					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.P327A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCCTTGATGGGCGTGCTGGAC	0.552000													30	243					0	0	0.009535	0	0
SCN4A	6329	broad.mit.edu	37	17	62049513	62049513	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:62049513G>C	ENST00000578147.1	-	3	541	c.465C>G	c.(463-465)ccC>ccG	p.P155P	SCN4A_ENST00000435607.1_Silent_p.P155P			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	155					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P155P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTTGGACCAGGGAGGCGGGT	0.552000													4	24					0	0	0.021553	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998367	92998367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:92998367C>G	ENST00000523629.1	-	9	1718	c.1264G>C	c.(1264-1266)Gac>Cac	p.D422H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D385H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D433H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D395H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D385H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D422H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D395H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D385H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	422					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D422H(1)|p.D385H(1)|p.D433H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCAACTGGGTCTGGGTTGACG	0.428000													16	147					0	0	0.004990	0	0
LTF	4057	broad.mit.edu	37	3	46485038	46485038	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:46485038C>A	ENST00000231751.4	-	13	1844	c.1549G>T	c.(1549-1551)Gac>Tac	p.D517Y	LTF_ENST00000417439.1_Missense_Mutation_p.D515Y|LTF_ENST00000426532.2_Missense_Mutation_p.D473Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	517	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.D517Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GATCTCGGGTCAGACCCAGGG	0.517000													16	169					4.7546e-09	6.50096e-09	0.004007	1	0
XCL1	6375	broad.mit.edu	37	1	168550395	168550395	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:168550395G>T	ENST00000367818.3	+	3	447	c.282G>T	c.(280-282)atG>atT	p.M94I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	94					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.M94I(1)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAAATAACATGATCCAGACCA	0.527000													10	48					4.68919e-08	6.17731e-08	0.008291	1	0
SLC18A2	6571	broad.mit.edu	37	10	119015006	119015006	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:119015006G>T	ENST00000298472.5	+	8	950	c.807G>T	c.(805-807)gtG>gtT	p.V269V	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	269					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.V269V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGCTCTTTGTGCTCCAGCCGT	0.542000													15	59					1.15088e-07	1.47897e-07	0.004007	1	0
OR5D18	219438	broad.mit.edu	37	11	55587648	55587648	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:55587648G>A	ENST00000333976.4	+	1	563	c.543G>A	c.(541-543)gaG>gaA	p.E181E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E181E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTTCTGTGAGTTCTCCTCAC	0.428000													28	217					0	0	0.007291	0	0
PSMD12	5718	broad.mit.edu	37	17	65340804	65340804	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:65340804T>C	ENST00000356126.3	-	9	1108	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	PSMD12_ENST00000357146.4_Missense_Mutation_p.E314G	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	334	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.E334G(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TGCAGGACTCTCAAGGGAACC	0.393000													15	90					0	0	0.004007	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551666	102551666	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:102551666G>A	ENST00000334701.7	-	5	1279	c.998C>T	c.(997-999)tCt>tTt	p.S333F	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.S32F|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S211F	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	211					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	p.S333F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	AATAAACTGAGAATGTTTCTT	0.378000													9	47					0	0	0.006214	0	0
OR2T11	127077	broad.mit.edu	37	1	248790155	248790155	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:248790155A>C	ENST00000330803.2	-	1	336	c.275T>G	c.(274-276)gTg>gGg	p.V92G		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V92G(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCACAGGCCACAAAGGAAAT	0.498000													12	61					0	0	0.013537	0	0
MUC17	140453	broad.mit.edu	37	7	100680394	100680394	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100680394C>A	ENST00000306151.4	+	3	5761	c.5697C>A	c.(5695-5697)acC>acA	p.T1899T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1899	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1900P(1)		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)					CACCTGTGACCACTTATGCTC	0.498000													60	446					1.12357e-39	2.13257e-39	0.014410	1	0
OBSCN	84033	broad.mit.edu	37	1	228548137	228548137	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:228548137T>C	ENST00000284548.11	+	81	19618	c.19544T>C	c.(19543-19545)cTc>cCc	p.L6515P	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3634P|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.L6515P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGCTGCTCAGCGTGGGG	0.701000													4	28					0	0	0.004482	0	0
AFF2	2334	broad.mit.edu	37	X	148037249	148037249	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:148037249G>C	ENST00000370460.2	+	11	2153	c.1674G>C	c.(1672-1674)ctG>ctC	p.L558L	AFF2_ENST00000286437.5_Silent_p.L199L|AFF2_ENST00000342251.3_Silent_p.L525L|AFF2_ENST00000370457.5_Silent_p.L525L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	558					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.L558L(4)|p.L199L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTCTGCCTCCTCCAA	0.458000													103	520					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139268931	139268931	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:139268931C>A	ENST00000395297.1	-	5	539		c.e5+1			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B									p.?(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGACACTCACTGCTGTTCAC	0.463000										HNSCC(54;0.14)			10	58					4.68919e-08	6.17731e-08	0.008291	1	0
PEAR1	375033	broad.mit.edu	37	1	156877441	156877441	+	Silent	SNP	C	C	T	rs148520058	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:156877441C>T	ENST00000338302.3	+	8	909	c.684C>T	c.(682-684)ttC>ttT	p.F228F	PEAR1_ENST00000292357.7_Silent_p.F228F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	228	EGF-like 2.					integral to membrane		p.F228F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTTCTTCTGCCCCAGCA	0.582000													85	321					0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	63					0	0	0.004672	0	0
NLRP10	338322	broad.mit.edu	37	11	7981815	7981815	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:7981815A>G	ENST00000328600.2	-	2	1505	c.1344T>C	c.(1342-1344)agT>agC	p.S448S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	448	NACHT.						ATP binding	p.S448S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCGTTACTACTCAGGAAAG	0.483000													27	165					0	0	0.006320	0	0
METTL17	64745	broad.mit.edu	37	14	21458201	21458201	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:21458201T>C	ENST00000339374.6	+	1	273	c.40T>C	c.(40-42)Tgg>Cgg	p.W14R	METTL17_ENST00000382985.4_Missense_Mutation_p.W14R|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000556670.2_Missense_Mutation_p.W14R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	14					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	p.W14R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ATTAGGAAGATGGTGCCCCGG	0.622000													11	66					0	0	0.004656	0	0
MACF1	23499	broad.mit.edu	37	1	39945556	39945556	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:39945556G>T	ENST00000564288.1	+	98	22822	c.22045G>T	c.(22045-22047)Ggt>Tgt	p.G7349C	MACF1_ENST00000545844.1_Missense_Mutation_p.G5261C|MACF1_ENST00000361689.2_Missense_Mutation_p.G5261C|MACF1_ENST00000317713.7_Missense_Mutation_p.G5261C|MACF1_ENST00000539005.1_Missense_Mutation_p.G5131C|MACF1_ENST00000289893.4_Missense_Mutation_p.G5769C|MACF1_ENST00000567887.1_Missense_Mutation_p.G7386C|MACF1_ENST00000372915.3_Missense_Mutation_p.G7219C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7219	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.G5769C(1)|p.G5261C(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGCTCACGGGGTCGAAGGTC	0.512000													41	67					6.5261e-18	1.11079e-17	0.008740	1	0
FAM211A	388341	broad.mit.edu	37	17	16347377	16347377	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:16347377G>A	ENST00000470794.1	-	4	587	c.560C>T	c.(559-561)tCc>tTc	p.S187F	C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|FAM211A_ENST00000409083.3_Silent_p.L148L|C17orf76-AS1_ENST00000584177.1_RNA	NM_001113567.2	NP_001107039.1	Q8NAA5	CQ076_HUMAN	family with sequence similarity 211, member A	187								p.S187F(2)|p.L101L(1)		lung(1)	1						CAGGTCTCGGGAGGTCAGTGG	0.622000													4	24					0	0	0.009096	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262397	61262397	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:61262397C>T	ENST00000344731.5	+	7	852	c.750C>T	c.(748-750)aaC>aaT	p.N250N	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	250					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTGCCCAACGACATCGATG	0.458000													10	226					0	0	0.020292	0	0
FUT9	10690	broad.mit.edu	37	6	96651063	96651063	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:96651063C>A	ENST00000302103.5	+	3	358	c.32C>A	c.(31-33)cCa>cAa	p.P11Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	11					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.P11Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATTCTTCGCCCATTTTTAATT	0.403000													9	151					1.12685e-05	1.3574e-05	0.004482	1	0
NPM1	4869	broad.mit.edu	37	5	170819801	170819801	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:170819801G>A	ENST00000296930.5	+	5	741	c.440G>A	c.(439-441)gGt>gAt	p.G147D	NPM1_ENST00000517671.1_Missense_Mutation_p.G147D|NPM1_ENST00000351986.6_Missense_Mutation_p.G147D|NPM1_ENST00000393820.2_Missense_Mutation_p.G147D	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	147	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	p.G147D(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCCTGGAGGTGGTAGCAAG	0.408000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								18	264					0	0	0.018920	0	0
HTR2C	3358	broad.mit.edu	37	X	114141546	114141546	+	Silent	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:114141546T>A	ENST00000276198.1	+	6	1673	c.945T>A	c.(943-945)atT>atA	p.I315I	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.I315I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	315					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.I315I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TCCTTGGGATTGTTTTCTTTG	0.433000													10	298					0	0	0.006214	0	0
GPR116	221395	broad.mit.edu	37	6	46826344	46826344	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:46826344C>A	ENST00000283296.7	-	17	3584	c.3296G>T	c.(3295-3297)aGc>aTc	p.S1099I	GPR116_ENST00000456426.2_Missense_Mutation_p.S957I|GPR116_ENST00000362015.4_Missense_Mutation_p.S1099I|GPR116_ENST00000265417.7_Missense_Mutation_p.S1099I|GPR116_ENST00000545669.1_Missense_Mutation_p.S528I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1099					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1099I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GAAGAAGACGCTGAGGTAGAA	0.512000													5	45					0.00116845	0.00127447	0.021553	1	0
STARD8	9754	broad.mit.edu	37	X	67941413	67941413	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:67941413G>T	ENST00000252336.6	+	9	2416	c.2044G>T	c.(2044-2046)Gcc>Tcc	p.A682S	STARD8_ENST00000374597.3_Missense_Mutation_p.A682S|STARD8_ENST00000374599.3_Missense_Mutation_p.A762S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	682	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A682S(2)|p.A762S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGCAGCACAAGCCGCCACCTT	0.562000													19	88					3.51602e-12	5.45361e-12	0.008871	1	0
PKP2	5318	broad.mit.edu	37	12	33031935	33031935	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:33031935C>A	ENST00000340811.4	-	2	363	c.255G>T	c.(253-255)gaG>gaT	p.E85D	PKP2_ENST00000070846.6_Missense_Mutation_p.E85D	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	85					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.E85D(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTAGACATACTCAGGAACAC	0.363000													17	130					7.45023e-12	1.14026e-11	0.010504	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618316	77618316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:77618316G>T	ENST00000521891.2	+	2	2441	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E665*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	665						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E665*(1)		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)			CCATATGAAGGAGAAACACCC	0.498000										HNSCC(33;0.089)			10	66					0.00829132	0.00876207	0.008291	1	0
KCNG1	3755	broad.mit.edu	37	20	49626462	49626462	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:49626462C>A	ENST00000371571.4	-	2	699	c.414G>T	c.(412-414)ctG>ctT	p.L138L	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.L138L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	138						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L138L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCGCGCAGCAGCCGCAGCT	0.657000													9	53					1.08611e-07	1.40198e-07	0.010729	1	0
CYP27A1	1593	broad.mit.edu	37	2	219679287	219679287	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:219679287A>T	ENST00000258415.4	+	8	1710	c.1283A>T	c.(1282-1284)cAc>cTc	p.H428L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	428					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.H428L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GTGTTCTGCCACTATGTGGTG	0.592000													29	140					0	0	0.006320	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714949	138714949	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:138714949G>A	ENST00000353963.3	-	9	1070	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	SLC23A1_ENST00000348729.3_Silent_p.Y340Y	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	340					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.Y344Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGGCACAGGCGTAGTAATCTC	0.617000													26	115					0	0	0.006320	0	0
FAT1	2195	broad.mit.edu	37	4	187538323	187538323	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:187538323T>C	ENST00000441802.2	-	11	9120	c.8911A>G	c.(8911-8913)Act>Gct	p.T2971A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2971	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.T2974A(1)|p.T2971A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTGTATAGTTTCAACGGCA	0.358000										HNSCC(5;0.00058)			16	65					0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92533884	92533884	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:92533884A>T	ENST00000298047.6	+	9	7722	c.7705A>T	c.(7705-7707)Agt>Tgt	p.S2569C	FAT3_ENST00000409404.2_Missense_Mutation_p.S2569C|FAT3_ENST00000525166.1_Missense_Mutation_p.S2419C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2569	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S2569C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGGATGTTAGTATTTTTGT	0.473000										TCGA Ovarian(4;0.039)			10	50					0	0	0.008291	0	0
USP24	23358	broad.mit.edu	37	1	55566576	55566576	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:55566576T>A	ENST00000294383.6	-	44	5206	c.5207A>T	c.(5206-5208)cAg>cTg	p.Q1736L	USP24_ENST00000407756.1_Missense_Mutation_p.Q1576L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1736					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q1736L(1)|p.Q1653L(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAGAGAGACTGCACTTGGTA	0.363000													8	64					0	0	0.004482	0	0
CBLN2	147381	broad.mit.edu	37	18	70205992	70205992	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:70205992C>A	ENST00000269503.4	-	4	1146	c.373G>T	c.(373-375)Ggc>Tgc	p.G125C	CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9C|CBLN2_ENST00000585159.1_Missense_Mutation_p.G125C|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11C	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	125	C1q.					integral to membrane		p.G125F(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AAGTGGTTGCCAATATTTACT	0.418000													14	99					7.93312e-07	9.97257e-07	0.020292	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130220349	130220349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:130220349C>T	ENST00000276211.5	+	10	1673	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S431F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S307F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S443F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTGTGGAAGTCCAGCCCGGAA	0.463000													11	106					0	0	0.010729	0	0
SI	6476	broad.mit.edu	37	3	164710138	164710138	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:164710138C>A	ENST00000264382.3	-	42	4951	c.4889G>T	c.(4888-4890)tGg>tTg	p.W1630L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1630	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W1630L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTGGACCCCATAAGAACTG	0.323000										HNSCC(35;0.089)			4	28					0.000602214	0.000668226	0.014758	1	0
SVEP1	79987	broad.mit.edu	37	9	113148345	113148345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:113148345C>A	ENST00000401783.2	-	43	10406	c.10070G>T	c.(10069-10071)tGc>tTc	p.C3357F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C3334F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1283F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3357	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C3360F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGAACAGGGCATGGATTTGC	0.388000													22	84					1.10923e-09	1.53853e-09	0.016522	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36097026	36097026	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:36097026G>A	ENST00000258840.6	-	34	5140	c.4750C>T	c.(4750-4752)Cac>Tac	p.H1584Y	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.H1550Y|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.H1537Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.H1537Y			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1537	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.H1537Y(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGATTGTCGTGATTTTCACAC	0.413000													26	78					0	0	0.012213	0	0
BIN2	51411	broad.mit.edu	37	12	51685619	51685619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:51685619G>T	ENST00000267012.4	-	10	1332	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	BIN2_ENST00000604560.1_Missense_Mutation_p.A397E|BIN2_ENST00000452142.2_Missense_Mutation_p.A392E|BIN2_ENST00000544402.1_Missense_Mutation_p.A398E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	424	Pro-rich.					cytoplasm	protein binding	p.A424E(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTGGGGCTTGCAGTGGCTCT	0.617000													5	111					0.0215528	0.0224071	0.021553	1	0
SF3B2	10992	broad.mit.edu	37	11	65829421	65829421	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:65829421A>T	ENST00000528302.1	+	15	1932	c.1878A>T	c.(1876-1878)ccA>ccT	p.P626P	SF3B2_ENST00000322535.6_Silent_p.P643P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	643					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.P643P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GACCACCCCCATCGTATCCCA	0.517000													4	38					0	0	0.009096	0	0
KLHL2	11275	broad.mit.edu	37	4	166231704	166231704	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:166231704G>T	ENST00000226725.6	+	10	1298		c.e10-1		KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.?(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TCCTTTTGCAGGCATGGTCTA	0.423000													61	317					7.07328e-35	1.32509e-34	0.014410	1	0
IGSF1	3547	broad.mit.edu	37	X	130407900	130407900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:130407900G>T	ENST00000370904.1	-	26	4764	c.3854C>A	c.(3853-3855)tCa>tAa	p.S1285*	IGSF1_ENST00000361420.3_Nonsense_Mutation_p.S1294*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S1285*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S1299*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1294					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.S1294*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCTGTCTCTGAGCCTCTATG	0.478000													41	388					1.62957e-23	2.92007e-23	0.008740	1	0
CAT	847	broad.mit.edu	37	11	34478335	34478335	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:34478335A>G	ENST00000241052.4	+	8	1116	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	343					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.I343V(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GCCACCTGGCATTGAGGCCAG	0.478000													12	75					0	0	0.010729	0	0
CLSTN1	22883	broad.mit.edu	37	1	9801204	9801204	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:9801204C>A	ENST00000377298.4	-	10	2259	c.1467G>T	c.(1465-1467)ccG>ccT	p.P489P	CLSTN1_ENST00000361311.4_Silent_p.P479P|CLSTN1_ENST00000377288.3_Silent_p.P489P	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	489					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.P489P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGATGGAGCGGGTAATCCT	0.537000													26	124					3.1745e-13	5.01831e-13	0.008361	1	0
DACT1	51339	broad.mit.edu	37	14	59112403	59112403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:59112403G>T	ENST00000395153.3	+	4	1098	c.951G>T	c.(949-951)agG>agT	p.R317S	DACT1_ENST00000335867.4_Missense_Mutation_p.R354S|DACT1_ENST00000541264.2_Missense_Mutation_p.R73S|DACT1_ENST00000556859.1_Missense_Mutation_p.R73S|DACT1_ENST00000395151.3_Missense_Mutation_p.R73S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	354					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R354S(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCCTGTAAGGACCAACAAAC	0.552000													14	67					0.00244969	0.00265192	0.020292	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869629	36869629	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:36869629A>C	ENST00000279024.4	-	3	1175	c.904T>G	c.(904-906)Tct>Gct	p.S302A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	302								p.S302A(1)		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)				AGTGCCCCAGAAGTACACCCA	0.522000													20	337					0	0	0.008871	0	0
SYTL4	94121	broad.mit.edu	37	X	99943410	99943410	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:99943410G>T	ENST00000372981.1	-	10	1129	c.943C>A	c.(943-945)Cac>Aac	p.H315N	SYTL4_ENST00000455616.1_Missense_Mutation_p.H315N|SYTL4_ENST00000372989.1_Missense_Mutation_p.H315N|SYTL4_ENST00000454200.2_Missense_Mutation_p.H317N|SYTL4_ENST00000263033.5_Missense_Mutation_p.H315N|SYTL4_ENST00000276141.6_Missense_Mutation_p.H315N			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	315					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.H315N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCACTAGGTGGTCAATGtct	0.388000													11	87					3.07112e-06	3.77029e-06	0.010729	1	0
FAM27L	284123	broad.mit.edu	37	17	21826233	21826233	+	RNA	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:21826233G>A	ENST00000426869.3	+	0	416					NR_028336.1				family with sequence similarity 27-like									p.R71Q(1)|p.R71L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		GCCACACCACGATACAGTCTT	0.542000													10	55					0	0	0.010729	0	0
IFIH1	64135	broad.mit.edu	37	2	163133444	163133444	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:163133444A>G	ENST00000263642.2	-	11	2452	c.2057T>C	c.(2056-2058)aTg>aCg	p.M686T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	686					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.M686T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTTTTCAACATTTTATTGTT	0.318000													17	98					0	0	0.004990	0	0
FLG2	388698	broad.mit.edu	37	1	152331316	152331316	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:152331316G>C	ENST00000388718.5	-	2	117	c.45C>G	c.(43-45)ttC>ttG	p.F15L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	15	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity	p.F15L(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATTTGTAGAAAACATCAA	0.423000													20	147					0	0	0.008871	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249881	68249881	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:68249881T>A	ENST00000347230.4	-	21	4126	c.3988A>T	c.(3988-3990)Agc>Tgc	p.S1330C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1330C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1330					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.S1330C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGGTTTGCTGACCTTTAAC	0.597000													18	192					0	0	0.012319	0	0
KCTD8	386617	broad.mit.edu	37	4	44177010	44177010	+	Missense_Mutation	SNP	G	G	A	rs143160739		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:44177010G>A	ENST00000360029.3	-	2	1502	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	407						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R407S(1)|p.R407C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGTTTCTGCGTTTGTCTGGT	0.463000										HNSCC(17;0.042)			46	276					0	0	0.014410	0	0
OR2G2	81470	broad.mit.edu	37	1	247751927	247751927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:247751927G>T	ENST00000320065.1	+	1	266	c.266G>T	c.(265-267)tGg>tTg	p.W89L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W89L(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTAAACCTGTGGGAACCCATG	0.522000													22	181					1.50039e-11	2.24864e-11	0.012319	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121216	38121216	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:38121216C>T	ENST00000406386.3	+	7	2908	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	885					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.R885C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCTCCCCACCGCTCCACTCA	0.532000													15	330					0	0	0.003163	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	75					0	0	0.004672	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157899	26157899	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:26157899G>C	ENST00000325250.1	+	2	984	c.797G>C	c.(796-798)cGc>cCc	p.R266P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	266	MAGE.						protein binding	p.R266P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GATCCTCCACGCTATGAATTC	0.498000													6	34					0	0	0.001984	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463491	130463491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:130463491C>A	ENST00000356763.3	-	2	1129	c.572G>T	c.(571-573)cGg>cTg	p.R191L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	191	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.R191L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGTTCTCCTCCGTGATGTGTC	0.413000													11	86					3.07112e-06	3.77029e-06	0.010729	1	0
EPN1	29924	broad.mit.edu	37	19	56203235	56203235	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:56203235C>G	ENST00000411543.2	+	7	1683	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W	EPN1_ENST00000085079.7_Missense_Mutation_p.S268W|EPN1_ENST00000270460.6_Missense_Mutation_p.S293W	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	293	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	p.S379W(1)|p.S293W(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GCCCCCACCTCGGACCCCTGG	0.751000													4	59					0	0	0.021553	0	0
PRR23B	389151	broad.mit.edu	37	3	138738865	138738865	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:138738865G>T	ENST00000329447.5	-	1	903	c.639C>A	c.(637-639)ccC>ccA	p.P213P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	213	Pro-rich.							p.P213P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCAAAGATGGGGCGTGGAG	0.627000													4	84					0.00024832	0.000282049	0.009096	1	0
AMER2	219287	broad.mit.edu	37	13	25744119	25744119	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:25744119G>T	ENST00000357816.2	-	3	1757	c.1282C>A	c.(1282-1284)Cgg>Agg	p.R428R	AMER2_ENST00000515384.1_Silent_p.R547R|AMER2_ENST00000381853.3_Silent_p.R428R					APC membrane recruitment protein 2									p.R428R(1)|p.R547R(1)									TAGCTATCCCGGGGGATGCCC	0.642000													14	94					4.36969e-10	6.14954e-10	0.016723	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16872832	16872832	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:16872832C>A	ENST00000355661.3	-	8	612	c.602G>T	c.(601-603)cGa>cTa	p.R201L	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R201L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R201L|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	201	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.R201L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGCTTCTTCTCGGCTGTCTTT	0.522000													18	94					9.16793e-09	1.24762e-08	0.004990	1	0
PRRC2A	7916	broad.mit.edu	37	6	31597577	31597577	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:31597577G>T	ENST00000376033.2	+	14	2443	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G737C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	737	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.G737C(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTCCTCCAGGGTCGTCCCCC	0.592000													16	99					4.7546e-09	6.50096e-09	0.004007	1	0
TAF1L	138474	broad.mit.edu	37	9	32633637	32633637	+	Silent	SNP	G	G	C	rs34334113		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:32633637G>C	ENST00000242310.4	-	1	2030	c.1941C>G	c.(1939-1941)ctC>ctG	p.L647L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	647					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.L647L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGGCTGAGAGAGTGCACCAA	0.502000													48	155					0	0	0.014410	0	0
ASTN1	460	broad.mit.edu	37	1	177001817	177001817	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:177001817G>T	ENST00000367654.2	-	3	653	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	ASTN1_ENST00000361833.2_Silent_p.R214R|ASTN1_ENST00000424564.2_Silent_p.R214R|ASTN1_ENST00000367657.3_Silent_p.R214R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	214					cell migration|neuron cell-cell adhesion	integral to membrane		p.R214R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGCTCTCCCGTCCGTGCCCG	0.622000													5	38					0.000157383	0.000179113	0.003080	1	0
DUSP22	56940	broad.mit.edu	37	6	348228	348228	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:348228G>A	ENST00000604971.1	+	3	1193	c.80G>A	c.(79-81)gGc>gAc	p.G27D	DUSP22_ENST00000419235.2_Missense_Mutation_p.G130D|DUSP22_ENST00000603453.1_Missense_Mutation_p.G27D|DUSP22_ENST00000605863.1_Missense_Mutation_p.G27D|DUSP22_ENST00000605315.1_Missense_Mutation_p.G27D|DUSP22_ENST00000344450.5_Missense_Mutation_p.G130D|DUSP22_ENST00000605035.1_Missense_Mutation_p.G27D			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	130					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G130D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCCAACGTGGGCTTCCAGAGA	0.572000													12	240					0	0	0.020292	0	0
FCRL2	79368	broad.mit.edu	37	1	157739662	157739662	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:157739662C>A	ENST00000361516.3	-	4	637	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V197L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	197					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.V197L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTGCTCTGCACGTGAATCTGG	0.473000													12	137					4.14922e-12	6.41849e-12	0.004007	1	0
POLR1B	84172	broad.mit.edu	37	2	113299993	113299993	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:113299993G>T	ENST00000541869.1	+	2	152	c.36G>T	c.(34-36)cgG>cgT	p.R12R	POLR1B_ENST00000409894.3_5'UTR|POLR1B_ENST00000263331.5_5'UTR			Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CGGGACTGCGGCCACTACTTC	0.642000													11	52					3.86212e-05	4.48379e-05	0.008291	1	0
GRM4	2914	broad.mit.edu	37	6	33995926	33995926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:33995926G>T	ENST00000374181.3	-	9	2829	c.2660C>A	c.(2659-2661)tCt>tAt	p.S887Y	GRM4_ENST00000535756.1_Missense_Mutation_p.S754Y|GRM4_ENST00000544773.1_Missense_Mutation_p.S718Y|GRM4_ENST00000455714.2_Missense_Mutation_p.S747Y|GRM4_ENST00000538487.1_Missense_Mutation_p.S887Y|GRM4_ENST00000374177.3_Missense_Mutation_p.S771Y|GRM4_ENST00000545715.1_Missense_Mutation_p.S579Y	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	887					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S887Y(2)|p.S771Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCAGAGCTCAGACTTGGCCTC	0.652000													11	56					1.08611e-07	1.40198e-07	0.010729	1	0
CLCNKA	1187	broad.mit.edu	37	1	16355272	16355272	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:16355272G>A	ENST00000375692.1	+	12	1113	c.985G>A	c.(985-987)Gct>Act	p.A329T	CLCNKA_ENST00000439316.2_Missense_Mutation_p.A286T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A329T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A329T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	329					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.A329T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGTGTACTCCGCTCTGGCCAC	0.642000													8	206					0	0	0.004482	0	0
DDX60	55601	broad.mit.edu	37	4	169201524	169201524	+	Missense_Mutation	SNP	C	C	A	rs137933604		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:169201524C>A	ENST00000393743.3	-	14	2231	c.1940G>T	c.(1939-1941)tGc>tTc	p.C647F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	647							ATP binding|ATP-dependent helicase activity|RNA binding	p.C647F(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGCTTTCAAGCAAGCAGTTAA	0.358000													18	164					1.45105e-14	2.34526e-14	0.006122	1	0
ASB15	142685	broad.mit.edu	37	7	123254559	123254559	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:123254559G>T	ENST00000451558.1	+	6	524	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Start_Codon_SNP_p.M1I|ASB15_ENST00000434204.1_Start_Codon_SNP_p.M1I|ASB15_ENST00000451215.1_Start_Codon_SNP_p.M1I|ASB15_ENST00000540573.1_Start_Codon_SNP_p.M1I|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	1					intracellular signal transduction			p.M1I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGCAGGAATGGATACTAATG	0.348000													41	199					3.43241e-23	6.13159e-23	0.009718	1	0
CD96	10225	broad.mit.edu	37	3	111343207	111343207	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:111343207G>T	ENST00000352690.4	+	10	1517	c.1277G>T	c.(1276-1278)gGc>gTc	p.G426V	CD96_ENST00000283285.5_Missense_Mutation_p.G442V	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	442	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.G442V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTACCCGAGGCTTCAACTAT	0.418000									Opitz Trigonocephaly syndrome				41	153					1.30916e-28	2.39047e-28	0.014410	1	0
LSP1	4046	broad.mit.edu	37	11	1908758	1908758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:1908758G>T	ENST00000406638.2	+	10	2101	c.799G>T	c.(799-801)Gag>Tag	p.E267*	LSP1_ENST00000405957.2_Nonsense_Mutation_p.E267*|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Nonsense_Mutation_p.E329*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.E457*	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	329					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.E329*(1)|p.E267*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGGGAAGTATGAGAAGGTGCT	0.577000													13	80					0.00244969	0.00265192	0.020292	1	0
SCN10A	6336	broad.mit.edu	37	3	38764936	38764936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:38764936C>A	ENST00000449082.2	-	18	3336	c.3337G>T	c.(3337-3339)Gac>Tac	p.D1113Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1113					sensory perception	voltage-gated sodium channel complex		p.D1113Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGAAGCAGTCATCTGGTTCT	0.552000													11	89					2.27111e-07	2.91207e-07	0.013537	1	0
SYNE2	23224	broad.mit.edu	37	14	64591827	64591827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:64591827G>T	ENST00000357395.3	+	72	13752	c.2608G>T	c.(2608-2610)Gtg>Ttg	p.V870L	SYNE2_ENST00000555002.1_Missense_Mutation_p.V1119L|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.V4485L|SYNE2_ENST00000394768.2_Missense_Mutation_p.V870L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V4485L|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4485					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.V4485L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTACCCAGCGTGACTATGTA	0.373000													13	83					4.3838e-07	5.57148e-07	0.016723	1	0
DCLK3	85443	broad.mit.edu	37	3	36779841	36779841	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:36779841G>T	ENST00000416516.2	-	2	800	c.310C>A	c.(310-312)Ccc>Acc	p.P104T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	104						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P104T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGCTACTGGGTTCTGGCTCC	0.577000													21	222					1.01871e-10	1.46949e-10	0.008871	1	0
BRPF3	27154	broad.mit.edu	37	6	36198206	36198206	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:36198206G>T	ENST00000357641.6	+	13	3691	c.3438G>T	c.(3436-3438)caG>caT	p.Q1146H	BRPF3_ENST00000443324.2_Missense_Mutation_p.Q812H|BRPF3_ENST00000534694.1_Missense_Mutation_p.Q812H|BRPF3_ENST00000543502.1_Missense_Mutation_p.Q876H|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000339717.7_Missense_Mutation_p.Q876H	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1146	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.Q1146H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATTTCAGGCAGTGGCTTCCAA	0.607000													12	70					9.31168e-06	1.12402e-05	0.016723	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503451	140503451	+	Missense_Mutation	SNP	G	G	T	rs149487286		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140503451G>T	ENST00000194152.1	+	1	1871	c.1871G>T	c.(1870-1872)cGc>cTc	p.R624L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		624	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.R624L(1)		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)			GGCGAGGTGCGCACCGCCAGG	0.697000													21	103					1.96895e-08	2.64205e-08	0.016522	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690535	77690535	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:77690535T>A	ENST00000521891.2	+	4	3633	c.3185T>A	c.(3184-3186)cTg>cAg	p.L1062Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1036Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1036						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1062Q(1)		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)			AAGTTGAATCTGGTACAACAT	0.532000										HNSCC(33;0.089)			25	157					0	0	0.006320	0	0
ASUN	55726	broad.mit.edu	37	12	27058465	27058465	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:27058465C>G	ENST00000261191.7	-	17	2622	c.2086G>C	c.(2086-2088)Gag>Cag	p.E696Q	ASUN_ENST00000539625.1_Missense_Mutation_p.E595Q	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	696					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.E696Q(1)									TCTGTTGTCTCCATCCTGAAA	0.299000													17	116					0	0	0.006122	0	0
DRD3	1814	broad.mit.edu	37	3	113858370	113858370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:113858370C>A	ENST00000383673.2	-	5	1130	c.700G>T	c.(700-702)Gtc>Ttc	p.V234F	DRD3_ENST00000467632.1_Missense_Mutation_p.V234F|DRD3_ENST00000460779.1_Missense_Mutation_p.V234F|DRD3_ENST00000295881.7_Missense_Mutation_p.V234F	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	234					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V234F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CCAGGCCTGACACTGTTGCAC	0.527000													55	211					4.46115e-38	8.41204e-38	0.014410	1	0
ZNF638	27332	broad.mit.edu	37	2	71592757	71592757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:71592757G>T	ENST00000409544.1	+	6	2546	c.1916G>T	c.(1915-1917)tGt>tTt	p.C639F	ZNF638_ENST00000264447.4_Missense_Mutation_p.C639F|ZNF638_ENST00000355812.3_Missense_Mutation_p.C639F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.C639F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	639					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.C639F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTATTCGTTGTAAATCAAAG	0.358000													16	52					3.45872e-05	4.06452e-05	0.004007	1	0
PDE1B	5153	broad.mit.edu	37	12	54943667	54943667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:54943667C>A	ENST00000243052.3	+	2	447	c.11C>A	c.(10-12)tCc>tAc	p.S4Y		NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	4					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S4Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGGAGCTGTCCCCCCGCAGT	0.627000													14	85					6.49762e-13	1.02156e-12	0.006122	1	0
HIRA	7290	broad.mit.edu	37	22	19365548	19365548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:19365548C>A	ENST00000263208.5	-	14	1713	c.1457G>T	c.(1456-1458)gGc>gTc	p.G486V	HIRA_ENST00000340170.4_Missense_Mutation_p.G486V|HIRA_ENST00000541063.1_Missense_Mutation_p.G442V|HIRA_ENST00000546308.1_Missense_Mutation_p.G442V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	486	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G486F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CGCCAGGGAGCCCGAGAGGGG	0.542000													20	237					3.51602e-12	5.45361e-12	0.008871	1	0
ITGAX	3687	broad.mit.edu	37	16	31384696	31384696	+	Silent	SNP	C	C	T	rs146985733		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:31384696C>T	ENST00000268296.4	+	20	2614	c.2493C>T	c.(2491-2493)taC>taT	p.Y831Y	ITGAX_ENST00000562522.1_Silent_p.Y831Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	831					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.Y831Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTACCGCTACGTGGCAGAGG	0.627000													19	82					0	0	0.016522	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691010	30691010	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:30691010T>A	ENST00000215790.7	-	5	723	c.559A>T	c.(559-561)Acg>Tcg	p.T187S	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.T99S|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.T61S|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T194S	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	187	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.T187S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGGTACAGCGTGTAGGCCTTC	0.647000													15	92					0	0	0.004990	0	0
SHROOM3	57619	broad.mit.edu	37	4	77680773	77680773	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:77680773G>A	ENST00000296043.6	+	9	6227	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1758	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.E1757E(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCAAGGCTGAGCTACTGAACA	0.453000													9	73					0	0	0.004482	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370069	35370069	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:35370069C>A	ENST00000373347.1	-	3	1184	c.916G>T	c.(916-918)Ggc>Tgc	p.G306C	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G306C			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	306					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.G306C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCGACCCGCCCGAGCGCCCC	0.652000													58	76					7.89702e-26	1.4284e-25	0.014410	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27835222	27835222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:27835222G>C	ENST00000331442.3	-	1	137	c.86C>G	c.(85-87)gCc>gGc	p.A29G		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	29					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A29G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCGGCGCCGGCAGCCTTCTT	0.612000													8	120					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26164338	26164338	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:26164338A>T	ENST00000335473.7	+	4	705	c.455A>T	c.(454-456)gAt>gTt	p.D152V	MYO18B_ENST00000407587.2_Missense_Mutation_p.D152V|MYO18B_ENST00000536101.1_Missense_Mutation_p.D152V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	152						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.D152V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGAGGGGTGATGTGTTGTTG	0.597000													9	44					0	0	0.004482	0	0
POLR3A	11128	broad.mit.edu	37	10	79781687	79781687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:79781687C>A	ENST00000372371.3	-	7	1116	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	327					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.G327C(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGGGGAATGCCCGAGAGCTCA	0.537000													17	67					1.2644e-06	1.586e-06	0.010504	1	0
RYR2	6262	broad.mit.edu	37	1	237794762	237794762	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:237794762C>G	ENST00000366574.2	+	42	6793	c.6476C>G	c.(6475-6477)cCt>cGt	p.P2159R	RYR2_ENST00000360064.6_Missense_Mutation_p.P2157R|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2159	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	p.P2157S(1)		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)			TACCAGCACCCTAATCTCATG	0.458000													12	42					0	0	0.016723	0	0
UAP1	6675	broad.mit.edu	37	1	162536099	162536099	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:162536099A>T	ENST00000271469.3	+	2	543	c.241A>T	c.(241-243)Aca>Tca	p.T81S	UAP1_ENST00000367924.1_Missense_Mutation_p.T81S|UAP1_ENST00000367926.4_Missense_Mutation_p.T81S|UAP1_ENST00000367925.1_Missense_Mutation_p.T81S			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	81					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	p.T81S(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGGCAGTGCTACAAGGGATCA	0.423000													8	45					0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21255419	21255419	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:21255419G>T	ENST00000233242.1	-	10	1286	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	APOB_ENST00000399256.4_Missense_Mutation_p.Q387K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	387	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.Q387T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGGCTGTCCACACTGA	0.507000													11	53					6.40141e-05	7.40203e-05	0.010729	1	0
SLC7A14	57709	broad.mit.edu	37	3	170219103	170219103	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:170219103G>A	ENST00000231706.4	-	3	651	c.336C>T	c.(334-336)gtC>gtT	p.V112V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	112						integral to membrane	amino acid transmembrane transporter activity	p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGTCTTGGGGACTCGAACTC	0.502000													6	43					0	0	0.021553	0	0
FRAS1	80144	broad.mit.edu	37	4	79207579	79207579	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:79207579A>T	ENST00000264895.6	+	14	1860	c.1420A>T	c.(1420-1422)Acg>Tcg	p.T474S	FRAS1_ENST00000325942.6_Missense_Mutation_p.T474S|FRAS1_ENST00000264899.6_Missense_Mutation_p.T474S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	474					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T474S(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAGTGCTCCACGTGTACCAG	0.567000													21	150					0	0	0.021523	0	0
XIST	7503	broad.mit.edu	37	X	73070884	73070884	+	RNA	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:73070884A>T	ENST00000429829.1	-	0	1704					NR_001564.2																						GTCTTCGCTGAGTAGCTGGAC	0.502000													33	163					0	0	0.009535	0	0
ARID2	196528	broad.mit.edu	37	12	46245363	46245363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:46245363G>T	ENST00000334344.6	+	15	3629	c.3457G>T	c.(3457-3459)Ggt>Tgt	p.G1153C	ARID2_ENST00000422737.1_Missense_Mutation_p.G1004C|ARID2_ENST00000444670.1_Missense_Mutation_p.G763C|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1153					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G1153C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATATTGCCAGGTCCACTGAT	0.478000			"""N, S, F"""		hepatocellular carcinoma								24	136					2.79863e-10	3.99706e-10	0.004656	1	0
DAB1	1600	broad.mit.edu	37	1	57756646	57756646	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:57756646G>T	ENST00000371236.2	-	2	320	c.57C>A	c.(55-57)tcC>tcA	p.S19S	DAB1_ENST00000371234.4_Silent_p.S19S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.S19S|DAB1_ENST00000371231.1_Silent_p.S19S|DAB1_ENST00000439789.2_Silent_p.S19S|DAB1_ENST00000371230.1_Silent_p.S19S|DAB1_ENST00000414851.2_Silent_p.S19S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	19					cell differentiation|nervous system development			p.S19S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTTCTGGAGTCTTTCT	0.408000													23	109					1.22574e-08	1.66021e-08	0.014323	1	0
KMT2C	58508	broad.mit.edu	37	7	151960177	151960177	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:151960177G>A	ENST00000355193.2	-	9	1441	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	KMT2C_ENST00000262189.6_Missense_Mutation_p.T408M					lysine (K)-specific methyltransferase 2C									p.T408M(2)									TTTGTCACACGTATCACACAC	0.313000													25	112					0	0	0.018920	0	0
RYR2	6262	broad.mit.edu	37	1	237550607	237550607	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:237550607A>T	ENST00000366574.2	+	9	920	c.603A>T	c.(601-603)ttA>ttT	p.L201F	RYR2_ENST00000360064.6_Missense_Mutation_p.L199F|RYR2_ENST00000542537.1_Missense_Mutation_p.L185F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	201	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L199F(1)		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)			ACGGCAGCTTACACGTGGATG	0.512000													5	52					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152277028	152277028	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:152277028C>T	ENST00000368799.1	-	3	10369	c.10334G>A	c.(10333-10335)aGg>aAg	p.R3445K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3445K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGCCTTCCTCTTCT	0.612000									Ichthyosis				40	656					0	0	0.008740	0	0
ULK1	8408	broad.mit.edu	37	12	132399719	132399719	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:132399719G>T	ENST00000321867.4	+	17	1816	c.1465G>T	c.(1465-1467)Gtc>Ttc	p.V489F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	489					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.V489F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCATGGAGGCGTCCTGGCCAG	0.682000													8	15					0.000157383	0.000179113	0.003080	1	0
MUC17	140453	broad.mit.edu	37	7	100683336	100683336	+	Missense_Mutation	SNP	C	C	A	rs142042551		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100683336C>A	ENST00000306151.4	+	3	8703	c.8639C>A	c.(8638-8640)cCg>cAg	p.P2880Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2880	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2880Q(1)		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)					AGCACCACGCCGGTGGCCAGT	0.488000													87	235					9.24773e-40	1.76104e-39	0.014410	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717000	222717000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:222717000G>T	ENST00000343410.6	-	2	911	c.853C>A	c.(853-855)Cac>Aac	p.H285N		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	285					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.H285N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCGATTGTGGCGGAATTTG	0.478000													40	324					1.04594e-18	1.79082e-18	0.006230	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249119037	249119037	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:249119037G>C	ENST00000366472.5	-	2	1327	c.98C>G	c.(97-99)gCa>gGa	p.A33G	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	33								p.A33G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGGCTCTTCTGCGACTGGGCT	0.582000													8	355					0	0	0.004482	0	0
TRPC4	7223	broad.mit.edu	37	13	38225593	38225593	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:38225593G>C	ENST00000379705.3	-	8	2745	c.1888C>G	c.(1888-1890)Cat>Gat	p.H630D	TRPC4_ENST00000447043.1_Missense_Mutation_p.H630D|TRPC4_ENST00000338947.5_Missense_Mutation_p.H457D|TRPC4_ENST00000379679.1_Missense_Mutation_p.H457D|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.H630D|TRPC4_ENST00000358477.2_Missense_Mutation_p.H630D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.H630D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	630	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.H630D(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATATCTGCATGGTCCTGAACA	0.428000													7	97					0	0	0.003080	0	0
OOSP2	219990	broad.mit.edu	37	11	59807963	59807963	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:59807963G>C	ENST00000278855.2	+	1	216	c.31G>C	c.(31-33)Gtc>Ctc	p.V11L	PLAC1L_ENST00000532905.1_5'UTR	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		11						extracellular region		p.V11L(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GCTCCTCGCTGTCTTGATTTG	0.478000													18	139					0	0	0.012319	0	0
MDH1	4190	broad.mit.edu	37	2	63824683	63824683	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:63824683A>G	ENST00000233114.8	+	4	785	c.350A>G	c.(349-351)gAt>gGt	p.D117G	MDH1_ENST00000409476.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.D117G|MDH1_ENST00000544381.1_Missense_Mutation_p.D28G|MDH1_ENST00000539945.1_Missense_Mutation_p.D135G|MDH1_ENST00000409908.1_Intron	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	117					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	p.D117G(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	GCAGCCTTAGATAAATACGCC	0.383000													3	41					0	0	0.004672	0	0
FKBP6	8468	broad.mit.edu	37	7	72756806	72756806	+	Splice_Site	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:72756806G>C	ENST00000252037.4	+	8	962		c.e8-1		FKBP6_ENST00000431982.2_Splice_Site|FKBP6_ENST00000413573.2_Splice_Site	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa						protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.?(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCCTCTCCAGCTGTTACAGG	0.478000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	298					0	0	0.004007	0	0
SOX1	6656	broad.mit.edu	37	13	112722333	112722333	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:112722333C>A	ENST00000330949.1	+	1	421	c.361C>A	c.(361-363)Cgg>Agg	p.R121R		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	121					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R121R(1)		lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TTACAAGTACCGGCCGCGCCG	0.697000													6	54					0.0215528	0.0224071	0.021553	1	0
PDZD2	23037	broad.mit.edu	37	5	32089086	32089086	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:32089086C>T	ENST00000438447.1	+	20	5920	c.5532C>T	c.(5530-5532)ggC>ggT	p.G1844G	PDZD2_ENST00000282493.3_Silent_p.G1844G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1844					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G1844G(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAAAAAGGGCGTTACTGTGC	0.478000													27	149					0	0	0.008361	0	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215927	168215927	+	RNA	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:168215927G>T	ENST00000358576.4	-	0	654					NR_026844.1													p.D119E(2)		lung(1)	1						GCAACATTCAGTCTACGATGG	0.413000													4	52					0.00909568	0.00955958	0.009096	1	0
TFDP1	7027	broad.mit.edu	37	13	114287464	114287464	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:114287464G>A	ENST00000375370.5	+	6	550	c.338G>A	c.(337-339)gGc>gAc	p.G113D	TFDP1_ENST00000544902.1_Missense_Mutation_p.G18D|TFDP1_ENST00000538138.1_Missense_Mutation_p.G18D|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	113					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.G113D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GAGAAGAATGGCAAGGGCCTA	0.517000										TSP Lung(29;0.18)			12	61					0	0	0.016723	0	0
HERC2	8924	broad.mit.edu	37	15	28389295	28389295	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr15:28389295G>A	ENST00000261609.7	-	73	11335	c.11227C>T	c.(11227-11229)Ctt>Ttt	p.L3743F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3743					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L3743F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTAGAGGCAAGGTTGAGTCGG	0.542000													11	163					0	0	0.016723	0	0
OR51M1	390059	broad.mit.edu	37	11	5411262	5411262	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:5411262C>T	ENST00000328611.3	+	1	656	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	212						integral to membrane	olfactory receptor activity	p.L212L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGTATGGACTGATGGTGGT	0.522000													23	86					0	0	0.012319	0	0
HIRA	7290	broad.mit.edu	37	22	19365549	19365549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:19365549C>A	ENST00000263208.5	-	14	1712	c.1456G>T	c.(1456-1458)Ggc>Tgc	p.G486C	HIRA_ENST00000340170.4_Missense_Mutation_p.G486C|HIRA_ENST00000541063.1_Missense_Mutation_p.G442C|HIRA_ENST00000546308.1_Missense_Mutation_p.G442C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	486	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G486F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCCAGGGAGCCCGAGAGGGGG	0.542000													20	237					3.51602e-12	5.45361e-12	0.008871	1	0
FER1L6	654463	broad.mit.edu	37	8	124992872	124992872	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:124992872C>A	ENST00000522917.1	+	11	1437	c.1231C>A	c.(1231-1233)Cag>Aag	p.Q411K	FER1L6_ENST00000399018.1_Missense_Mutation_p.Q411K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	411						integral to membrane		p.Q411K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGACGGGCACAGGAATCTAA	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	134					1.97e-11	2.92961e-11	0.010771	1	0
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:47426121C>T	ENST00000377045.4	+	7	835	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	214					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S214F(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAAC	0.662000													15	36					0	0	0.004007	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298770	79298770	+	Silent	SNP	G	G	A	rs141856364	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr15:79298770G>A	ENST00000419573.3	-	15	2146	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.D611D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	624					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.D624D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAAGGAGGCGTCGGACCTGA	0.552000													5	74					0	0	0.021553	0	0
ADH6	130	broad.mit.edu	37	4	100129927	100129927	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:100129927G>C	ENST00000394897.1	-	6	808	c.726C>G	c.(724-726)ctC>ctG	p.L242L	ADH6_ENST00000407820.2_Silent_p.L33L|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Silent_p.L242L|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Silent_p.L242L|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	242					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.L242L(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCTGAGGGTTGAGGCACTCAG	0.443000													90	482					0	0	0.014410	0	0
OSR2	116039	broad.mit.edu	37	8	99963021	99963021	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:99963021C>T	ENST00000523368.1	+	3	1290	c.794C>T	c.(793-795)tCg>tTg	p.S265L	OSR2_ENST00000297565.4_Intron|OSR2_ENST00000522510.1_Intron|OSR2_ENST00000435298.2_Intron|OSR2_ENST00000457907.2_Intron			Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	0					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTGGCTGGTTCGTGTTATCAT	0.383000													4	15					0	0	0.009096	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454719	100454719	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100454719C>T	ENST00000354161.3	+	5	803	c.678C>T	c.(676-678)ggC>ggT	p.G226G	SLC12A9_ENST00000415287.1_Silent_p.G137G|SLC12A9_ENST00000540482.1_Silent_p.G226G|SLC12A9_ENST00000428758.1_Silent_p.G226G|SLC12A9_ENST00000275729.3_Silent_p.G137G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	226						integral to membrane|plasma membrane	cation:chloride symporter activity	p.G226G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTAGGCCTGGCCCCAATGGCT	0.627000													7	150					0	0	0.003080	0	0
PFKL	5211	broad.mit.edu	37	21	45730918	45730918	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:45730918G>A	ENST00000403390.1	+	4	330	c.330G>A	c.(328-330)gaG>gaA	p.E110E	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.E63E			P17858	K6PL_HUMAN	phosphofructokinase, liver	63					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.E110E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AGGGAGGTGAGAACATCAAGC	0.602000													12	92					0	0	0.010729	0	0
KCNG1	3755	broad.mit.edu	37	20	49626477	49626477	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:49626477C>A	ENST00000371571.4	-	2	684	c.399G>T	c.(397-399)gcG>gcT	p.A133A	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.A133A	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	133						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A133A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGCTTGCCCGCGCGCAGGA	0.642000													8	60					1.58986e-06	1.97705e-06	0.008291	1	0
WDR13	64743	broad.mit.edu	37	X	48457296	48457296	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:48457296A>T	ENST00000218056.5	+	2	738	c.233A>T	c.(232-234)tAt>tTt	p.Y78F	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	78						cytoplasm|nucleus		p.Y78F(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCGTGCCTATAGCAACAGC	0.662000													11	34					0	0	0.008291	0	0
MUC17	140453	broad.mit.edu	37	7	100680395	100680395	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100680395A>C	ENST00000306151.4	+	3	5762	c.5698A>C	c.(5698-5700)Act>Cct	p.T1900P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1900	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1900P(1)		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)					ACCTGTGACCACTTATGCTCA	0.493000													61	443					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168106328	168106328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:168106328G>T	ENST00000409195.1	+	9	8515	c.8426G>T	c.(8425-8427)gGa>gTa	p.G2809V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2634					actin cytoskeleton organization	cell junction	actin binding	p.G2809V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAATTTAGCGGATCTGACAGA	0.398000													24	96					3.6726e-16	6.14229e-16	0.021523	1	0
SCFD2	152579	broad.mit.edu	37	4	54232058	54232058	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:54232058C>A	ENST00000401642.3	-	1	184	c.51G>T	c.(49-51)gtG>gtT	p.V17V	SCFD2_ENST00000388940.4_Silent_p.V17V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport|vesicle docking involved in exocytosis			p.V17V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTTGGCCAGCACCTGCTCCC	0.627000													16	75					3.45872e-05	4.06452e-05	0.004007	1	0
TERT	7015	broad.mit.edu	37	5	1264701	1264701	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:1264701C>A	ENST00000310581.5	-	11	2718	c.2661G>T	c.(2659-2661)ctG>ctT	p.L887L	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	887	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.L875L(1)|p.L887L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCTCGGACCAGGGTCCTAA	0.582000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	135					1.10923e-09	1.53853e-09	0.016522	1	0
ZNF728	388523	broad.mit.edu	37	19	23159498	23159498	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:23159498G>A	ENST00000594710.1	-	4	786	c.641C>T	c.(640-642)tCa>tTa	p.S214L		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGTAAGGGCTGAGGACCAGTT	0.368000													11	38					0	0	0.008291	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256256	97256256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:97256256G>T	ENST00000523821.1	-	7	1069	c.950C>A	c.(949-951)aCc>aAc	p.T317N	MTERFD1_ENST00000287025.3_Missense_Mutation_p.T317N|MTERFD1_ENST00000522822.1_Missense_Mutation_p.T196N|MTERFD1_ENST00000524341.1_Intron			Q96E29	MTER1_HUMAN	MTERF domain containing 1	317					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	p.T317N(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGGGATTCTGGTGATCATATG	0.328000													16	64					6.72482e-11	9.77386e-11	0.003163	1	0
PDE1A	5136	broad.mit.edu	37	2	183053786	183053786	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:183053786C>A	ENST00000435564.1	-	11	1375	c.1173_splice	c.e11-1	p.G392_splice	PDE1A_ENST00000409365.1_Splice_Site_p.G376_splice|PDE1A_ENST00000536095.1_Splice_Site_p.G288_splice|PDE1A_ENST00000410103.1_Splice_Site_p.G392_splice|PDE1A_ENST00000351439.5_Splice_Site_p.G376_splice|PDE1A_ENST00000456212.1_Splice_Site_p.G392_splice|PDE1A_ENST00000358139.2_Splice_Site_p.G392_splice|PDE1A_ENST00000331935.6_Splice_Site_p.G392_splice|PDE1A_ENST00000346717.4_Splice_Site_p.G358_splice	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G392E(2)|p.G392V(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCTTTATCTCCCTGGAGAAA	0.393000													32	183					3.90053e-15	6.39376e-15	0.012213	1	0
AC005609.1	0	broad.mit.edu	37	5	140242795	140242795	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140242795G>A	ENST00000502505.1	-	1	429	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron																							GCGGAGAGCAGCCAAGCGAGG	0.672000													4	30					0	0	0.009096	0	0
RBL1	5933	broad.mit.edu	37	20	35632118	35632118	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:35632118C>A	ENST00000373664.3	-	21	3089	c.3023G>T	c.(3022-3024)gGc>gTc	p.G1008V	RBL1_ENST00000344359.3_Missense_Mutation_p.G1008V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1008					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.G1008F(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAAGGGCTGCCATTGAACTT	0.438000													23	141					7.4402e-23	1.32092e-22	0.021523	1	0
C4orf51	646603	broad.mit.edu	37	4	146601435	146601435	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:146601435G>C	ENST00000438731.1	+	1	80	c.80G>C	c.(79-81)aGa>aCa	p.R27T		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	27								p.R27T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GATCTGATCAGACGCAAGGCT	0.468000													26	141					0	0	0.005443	0	0
PRDM9	56979	broad.mit.edu	37	5	23509208	23509208	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:23509208C>A	ENST00000296682.3	+	2	248	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	22					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P22P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCGGAAGCCCATGGTGAGAA	0.562000										HNSCC(3;0.000094)			17	52					1.01871e-10	1.46949e-10	0.008871	1	0
KLK15	55554	broad.mit.edu	37	19	51330248	51330248	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:51330248G>T	ENST00000326856.4	-	4	493	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	KLK15_ENST00000598239.1_Missense_Mutation_p.R123S|KLK15_ENST00000596931.1_Missense_Mutation_p.R122S|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R123S	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	123	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R123S(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCGCGGGGCGCACCTGGGGG	0.701000													29	87					4.34311e-12	6.68259e-12	0.015359	1	0
PLXNA4	91584	broad.mit.edu	37	7	131872244	131872244	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:131872244G>T	ENST00000359827.3	-	15	3941	c.2979C>A	c.(2977-2979)ccC>ccA	p.P993P	PLXNA4_ENST00000321063.4_Silent_p.P993P			Q9HCM2	PLXA4_HUMAN	plexin A4	993	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.P993P(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAAGAGACAGGGCTGCTTTC	0.547000													84	561					3.99893e-49	7.64033e-49	0.014410	1	0
LY6D	8581	broad.mit.edu	37	8	143867039	143867039	+	Silent	SNP	C	C	T	rs138562115		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:143867039C>T	ENST00000301263.4	-	2	192	c.117G>A	c.(115-117)ccG>ccA	p.P39P	LY6D_ENST00000518434.1_5'UTR|RP11-706C16.8_ENST00000510610.2_RNA	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	39	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding	p.P39P(1)		large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGAGCTGGCCGGGCAGACCA	0.647000													33	97					0	0	0.019004	0	0
COL11A1	1301	broad.mit.edu	37	1	103463891	103463891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:103463891C>A	ENST00000358392.2	-	25	2524	c.2207G>T	c.(2206-2208)gGa>gTa	p.G736V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G608V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G724V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G685V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	724	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G736V(1)|p.G724V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGAAGTCCAGCAAGTCC	0.303000													5	24					0.014758	0.0153985	0.014758	1	0
GBP5	115362	broad.mit.edu	37	1	89730452	89730452	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:89730452T>C	ENST00000343435.5	-	8	1602	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	GBP5_ENST00000370459.3_Missense_Mutation_p.R356G|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	356						plasma membrane	GTP binding|GTPase activity	p.R356G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCACTGGTCCTGTGCAGGTCC	0.488000													23	86					0	0	0.014323	0	0
ASIC1	41	broad.mit.edu	37	12	50471085	50471085	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:50471085T>A	ENST00000228468.4	+	4	1033	c.648T>A	c.(646-648)aaT>aaA	p.N216K	ASIC1_ENST00000552438.1_Missense_Mutation_p.N250K|ASIC1_ENST00000447966.2_Missense_Mutation_p.N216K	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	216					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.N216K(1)								Amiloride(DB00594)	GGACGGGCAATGGGCTGGAAA	0.617000													4	100					0	0	0.009096	0	0
ZBBX	79740	broad.mit.edu	37	3	167051729	167051729	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:167051729C>G	ENST00000392766.2	-	10	913	c.573G>C	c.(571-573)caG>caC	p.Q191H	ZBBX_ENST00000392767.2_Missense_Mutation_p.Q191H|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q162H|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q191H|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q191H|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	191						intracellular	zinc ion binding	p.Q191H(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCTTTATAAACTGATGGGCAA	0.299000													9	65					0	0	0.006214	0	0
GCM1	8521	broad.mit.edu	37	6	52993667	52993667	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:52993667A>T	ENST00000259803.7	-	6	859	c.648T>A	c.(646-648)ggT>ggA	p.G216G		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	216						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G216G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACTGTAACTACCAGGCAATT	0.438000													29	148					0	0	0.008361	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594338	140594338	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140594338G>T	ENST00000341948.4	+	1	830	c.643G>T	c.(643-645)Gca>Tca	p.A215S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A215S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACACTCACAGCACTGGATGG	0.547000													28	119					2.4375e-19	4.19832e-19	0.007291	1	0
SLC24A2	25769	broad.mit.edu	37	9	19597236	19597236	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:19597236T>C	ENST00000341998.2	-	4	1181	c.1120A>G	c.(1120-1122)Act>Gct	p.T374A	SLC24A2_ENST00000286344.3_Intron	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	374					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.T374A(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTTCTTCAGTCATTGTGTCA	0.318000													4	22					0	0	0.009096	0	0
DIP2A	23181	broad.mit.edu	37	21	47976893	47976893	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:47976893G>C	ENST00000318711.7	+	30	3726	c.3543G>C	c.(3541-3543)aaG>aaC	p.K1181N	DIP2A_ENST00000417564.2_Missense_Mutation_p.K1180N|DIP2A_ENST00000400274.1_Missense_Mutation_p.K1176N	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1180					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.K1180N(1)|p.K1181N(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTCCATAAAGCTGCAGTGTG	0.522000													7	8					0	0	0.003080	0	0
CPS1	1373	broad.mit.edu	37	2	211527847	211527847	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:211527847G>T	ENST00000233072.5	+	33	4124	c.3927_splice	c.e33-1	p.A1310_splice	CPS1_ENST00000430249.2_Splice_Site_p.A1316_splice|CPS1_ENST00000451903.2_Splice_Site_p.A859_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1310					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A1316S(1)|p.A1310S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTCCAACAGGCTCCCATGTT	0.408000													14	56					2.31682e-05	2.73936e-05	0.003163	1	0
DSC2	1824	broad.mit.edu	37	18	28648013	28648013	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:28648013T>C	ENST00000280904.6	-	16	3117	c.2674A>G	c.(2674-2676)Agg>Ggg	p.R892G	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	892					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R892G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCTAGTGTCCTAAATTTGGGC	0.398000													3	86					0	0	0.009096	0	0
MET	4233	broad.mit.edu	37	7	116340082	116340082	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:116340082A>G	ENST00000397752.3	+	2	1144	c.944A>G	c.(943-945)aAt>aGt	p.N315S	MET_ENST00000436117.2_Missense_Mutation_p.N315S|MET_ENST00000318493.6_Missense_Mutation_p.N315S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	315	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.N315S(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTGTTTAATATACTTCAG	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				12	72					0	0	0.010729	0	0
B4GALT6	9331	broad.mit.edu	37	18	29206276	29206276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:29206276T>A	ENST00000306851.5	-	8	1267	c.971A>T	c.(970-972)cAc>cTc	p.H324L	B4GALT6_ENST00000237019.7_Missense_Mutation_p.H285L|B4GALT6_ENST00000383131.3_Missense_Mutation_p.H285L	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	324					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	p.H324L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			ACCTCTATGGTGATGAGGAAT	0.353000													8	37					0	0	0.004482	0	0
SLIT1	6585	broad.mit.edu	37	10	98807553	98807553	+	Missense_Mutation	SNP	C	C	A	rs139828471		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:98807553C>A	ENST00000266058.4	-	16	1773	c.1528G>T	c.(1528-1530)Gac>Tac	p.D510Y	SLIT1_ENST00000371070.4_Missense_Mutation_p.D510Y|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	510	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.D510Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGACCACGTCGCTGTTGCAC	0.652000													12	81					0.00010058	0.000115377	0.013537	1	0
MYPN	84665	broad.mit.edu	37	10	69881917	69881917	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:69881917C>A	ENST00000358913.5	+	2	1210	c.722C>A	c.(721-723)gCt>gAt	p.A241D	MYPN_ENST00000540630.1_Missense_Mutation_p.A241D|MYPN_ENST00000373675.3_Missense_Mutation_p.A241D|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	241	Interaction with CARP.					nucleus|sarcomere	actin binding	p.A241D(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCGGAGCAGGCTGCCAGTGAG	0.557000													12	37					4.3838e-07	5.57148e-07	0.016723	1	0
OR10W1	81341	broad.mit.edu	37	11	58034470	58034470	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:58034470C>A	ENST00000395079.2	-	1	1262	c.861G>T	c.(859-861)gaG>gaT	p.E287D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E287D(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCCCTTTCATCTCACTGTTCC	0.522000													23	192					1.10923e-09	1.53853e-09	0.016522	1	0
CCDC47	57003	broad.mit.edu	37	17	61842180	61842180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:61842180C>T	ENST00000225726.5	-	3	674	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CCDC47_ENST00000582252.1_Missense_Mutation_p.D98N|CCDC47_ENST00000403162.3_Missense_Mutation_p.D98N	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	98						integral to membrane	protein binding	p.D98N(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTTCATCATCATATGGTTCA	0.388000													18	141					0	0	0.008871	0	0
IGSF5	150084	broad.mit.edu	37	21	41165524	41165524	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:41165524G>A	ENST00000380588.4	+	8	1215	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	371						integral to membrane|tight junction		p.C371Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AACAGTAGCTGTGGCCCTCCT	0.418000													21	145					0	0	0.014323	0	0
LRRK2	120892	broad.mit.edu	37	12	40692296	40692296	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:40692296G>T	ENST00000298910.7	+	24	3405		c.e24+1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.?(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTAGAAGGGTAAGAAAGAG	0.358000													21	109					2.70639e-06	3.35826e-06	0.014323	1	0
ABLIM1	3983	broad.mit.edu	37	10	116197683	116197683	+	Splice_Site	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:116197683T>A	ENST00000369252.4	-	22	2264	c.1962_splice	c.e22-1	p.I655_splice	ABLIM1_ENST00000369253.2_Splice_Site_p.I338_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.I715_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000369266.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000533213.2_Splice_Site_p.I655_splice	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	715					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.I655L(1)|p.I392L(1)|p.I715L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TATGGAAATATCTGAGAAGAA	0.418000													28	133					0	0	0.008361	0	0
MUC2	4583	broad.mit.edu	37	11	1080968	1080968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:1080968C>A	ENST00000441003.2	+	10	1379	c.1352C>A	c.(1351-1353)gCt>gAt	p.A451D	MUC2_ENST00000359061.5_Missense_Mutation_p.A451D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	451	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.A451D(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGCTGCTGGCTGACAAGAAG	0.637000													11	78					4.68919e-08	6.17731e-08	0.008291	1	0
PABPC5	140886	broad.mit.edu	37	X	90690948	90690948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:90690948C>A	ENST00000312600.3	+	2	586	c.372C>A	c.(370-372)taC>taA	p.Y124*	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	124	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.Y124*(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCCTGTTTTACTTATTTTCTG	0.443000													40	202					5.20837e-25	9.36208e-25	0.008740	1	0
BSND	7809	broad.mit.edu	37	1	55474212	55474212	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:55474212G>A	ENST00000371265.4	+	4	1128	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	292						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.E292K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGAGAAGGAAGAGGAAGACCT	0.587000													14	161					0	0	0.004007	0	0
BOLA1	51027	broad.mit.edu	37	1	149871771	149871771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:149871771C>G	ENST00000369153.2	+	3	823	c.159C>G	c.(157-159)aaC>aaG	p.N53K	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Missense_Mutation_p.N53K|BOLA1_ENST00000369152.5_Missense_Mutation_p.N53K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	53						extracellular region	protein binding	p.N53K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCTTCGCAACGAGAGCGGTG	0.682000													4	66					0	0	0.014758	0	0
CUL7	9820	broad.mit.edu	37	6	43020118	43020118	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:43020118G>C	ENST00000535468.1	-	2	651	c.565C>G	c.(565-567)Cta>Gta	p.L189V	CUL7_ENST00000265348.3_Missense_Mutation_p.L137V	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	137					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L137V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGTGAAGTAGAGGAGCAGGA	0.557000													12	73					0	0	0.010729	0	0
PSMC6	5706	broad.mit.edu	37	14	53180639	53180639	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:53180639G>T	ENST00000445930.2	+	7	530	c.524G>T	c.(523-525)cGt>cTt	p.R175L	PSMC6_ENST00000606149.1_Missense_Mutation_p.R161L			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	p.R175L(1)|p.R161L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTATTTCAGCGTGTAGGAATA	0.308000													19	118					2.39187e-15	3.94317e-15	0.008871	1	0
PRG4	10216	broad.mit.edu	37	1	186276759	186276759	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:186276759C>A	ENST00000445192.2	+	7	1953	c.1908C>A	c.(1906-1908)acC>acA	p.T636T	PRG4_ENST00000367486.3_Silent_p.T593T|PRG4_ENST00000367483.4_Silent_p.T595T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T543T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	636	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T636T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCTGAGAAGC	0.682000													8	26					4.68919e-08	6.17731e-08	0.008291	1	0
FEZ1	9638	broad.mit.edu	37	11	125359482	125359482	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:125359482A>G	ENST00000278919.3	-	2	426	c.192T>C	c.(190-192)aaT>aaC	p.N64N	FEZ1_ENST00000524435.1_Silent_p.N64N|FEZ1_ENST00000366139.3_Silent_p.N64N	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	64					axon guidance|cell adhesion|transport	microtubule|plasma membrane		p.N64N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CATCAAATTCATTTACGAGGT	0.488000													22	115					0	0	0.014323	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674829	9674829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:9674829C>A	ENST00000330255.4	-	6	927	c.915G>T	c.(913-915)aaG>aaT	p.K305N	DHRS7C_ENST00000571134.1_Missense_Mutation_p.K304N	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	305						extracellular region	binding|oxidoreductase activity	p.K305N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GGACATTGAGCTTCTCCTTCA	0.582000													6	24					0.00116845	0.00127447	0.021553	1	0
RBL1	5933	broad.mit.edu	37	20	35632119	35632119	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:35632119C>A	ENST00000373664.3	-	21	3088	c.3022G>T	c.(3022-3024)Ggc>Tgc	p.G1008C	RBL1_ENST00000344359.3_Missense_Mutation_p.G1008C	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1008					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.G1008F(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GAAGGGCTGCCATTGAACTTG	0.438000													23	142					7.4402e-23	1.32092e-22	0.021523	1	0
OR5M1	390168	broad.mit.edu	37	11	56380709	56380709	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:56380709C>T	ENST00000526538.1	-	1	269	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K90N(1)|p.K90K(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGGAGATGGTCTTCTGTTCTG	0.448000													12	62					0	0	0.016723	0	0
CARD14	79092	broad.mit.edu	37	17	78165189	78165189	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:78165189G>T	ENST00000573882.1	+	10	1693	c.1157G>T	c.(1156-1158)cGc>cTc	p.R386L	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.R386L|CARD14_ENST00000392434.2_Missense_Mutation_p.R149L|CARD14_ENST00000344227.2_Missense_Mutation_p.R386L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	386					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.R386L(1)|p.R149L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACTCCCTCCGCAGGCAGGTG	0.662000													22	115					1.22574e-08	1.66021e-08	0.014323	1	0
HYI	81888	broad.mit.edu	37	1	43918609	43918609	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:43918609G>A	ENST00000372434.1	-	3	382	c.351C>T	c.(349-351)ggC>ggT	p.G117G	HYI_ENST00000372425.4_Intron|HYI_ENST00000372426.1_Silent_p.G44G|HYI_ENST00000372432.1_Intron|HYI_ENST00000583037.1_Intron|HYI_ENST00000486909.1_Intron	NM_001243526.1	NP_001230455.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	95							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				aatacaccaggcctcctcttg	0.537000													4	27					0	0	0.021553	0	0
SPZ1	84654	broad.mit.edu	37	5	79617271	79617271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:79617271C>A	ENST00000296739.4	+	1	1482	c.1237C>A	c.(1237-1239)Cat>Aat	p.H413N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H413N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GTTCAATATTCATGTTGCAAG	0.373000													22	127					1.55795e-14	2.504e-14	0.012319	1	0
SERPINA4	5267	broad.mit.edu	37	14	95030082	95030082	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:95030082T>C	ENST00000557004.1	+	2	684	c.263T>C	c.(262-264)aTg>aCg	p.M88T	SERPINA4_ENST00000298841.5_Missense_Mutation_p.M88T|SERPINA4_ENST00000555095.1_Missense_Mutation_p.M88T|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	88					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.M88T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCTACGCCATGCTTTCCCTG	0.597000													11	55					0	0	0.013537	0	0
ETAA1	54465	broad.mit.edu	37	2	67630780	67630780	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:67630780G>A	ENST00000272342.5	+	5	1096	c.966G>A	c.(964-966)gaG>gaA	p.E322E	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	322						cytoplasm|nucleus		p.E322E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAAAGAGGAGAAAATCATTA	0.373000													4	84					0	0	0.014758	0	0
PEAR1	375033	broad.mit.edu	37	1	156880491	156880491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:156880491C>A	ENST00000338302.3	+	16	2132	c.1907C>A	c.(1906-1908)aCc>aAc	p.T636N	PEAR1_ENST00000292357.7_Missense_Mutation_p.T636N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	636	EGF-like 8.					integral to membrane		p.T636N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGAACGGGACCTGCTACTGC	0.622000													5	31					2.17888e-05	2.58154e-05	0.006214	1	0
BCL11B	64919	broad.mit.edu	37	14	99641785	99641785	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:99641785G>A	ENST00000345514.2	-	3	1441	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	BCL11B_ENST00000357195.3_Missense_Mutation_p.A463V|BCL11B_ENST00000443726.2_Missense_Mutation_p.A269V	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	463						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGAGCACGCGTGGTCGCA	0.657000			T	TLX3	T-ALL								3	34					0	0	0.004672	0	0
FLG2	388698	broad.mit.edu	37	1	152323527	152323527	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:152323527G>C	ENST00000388718.5	-	3	6807	c.6735C>G	c.(6733-6735)tcC>tcG	p.S2245S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2245							calcium ion binding|structural molecule activity	p.S2245S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTTGTCCTGGACCCTCTCT	0.527000													73	483					0	0	0.014410	0	0
GRIK1	2897	broad.mit.edu	37	21	30934151	30934151	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:30934151T>A	ENST00000399914.1	-	14	2626	c.2105A>T	c.(2104-2106)tAt>tTt	p.Y702F	GRIK1_ENST00000399909.1_Missense_Mutation_p.Y702F|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y719F|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y717F|GRIK1_ENST00000327783.4_Missense_Mutation_p.Y717F|GRIK1_ENST00000399907.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000535441.1_Missense_Mutation_p.Y719F|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y702F			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	717					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.Y717F(1)|p.Y702F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCTTCTCATAGGTGGAGAT	0.493000													4	33					0	0	0.009096	0	0
KLHL5	51088	broad.mit.edu	37	4	39116892	39116892	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:39116892G>T	ENST00000261425.3	+	11	2167	c.2015G>T	c.(2014-2016)gGa>gTa	p.G672V	KLHL5_ENST00000381930.3_Missense_Mutation_p.G718V|KLHL5_ENST00000261426.5_Missense_Mutation_p.G657V|KLHL5_ENST00000508137.2_Missense_Mutation_p.G531V|KLHL5_ENST00000504108.1_Missense_Mutation_p.G718V|KLHL5_ENST00000359687.2_Missense_Mutation_p.G718V|RP11-360F5.1_ENST00000509449.1_RNA	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	718						cytoplasm|cytoskeleton	actin binding	p.G718V(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGTATGATGGACAGGCATAC	0.448000													7	71					5.18039e-06	6.30609e-06	0.003080	1	0
DOCK2	1794	broad.mit.edu	37	5	169509814	169509814	+	Silent	SNP	G	G	A	rs140457281	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:169509814G>A	ENST00000256935.8	+	52	5525	c.5445G>A	c.(5443-5445)tcG>tcA	p.S1815S	DOCK2_ENST00000520908.1_Silent_p.S1307S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S876S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1815					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1815S(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCAAATCGGCTGAAGAAG	0.507000													11	61					0	0	0.010729	0	0
SYCP3	50511	broad.mit.edu	37	12	102131692	102131692	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:102131692A>T	ENST00000392927.3	-	2	153	c.22T>A	c.(22-24)Tat>Aat	p.Y8N	SYCP3_ENST00000392924.1_Missense_Mutation_p.Y8N|SYCP3_ENST00000266743.2_Missense_Mutation_p.Y8N	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	8					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	p.Y8N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCCTGGAATACTTTTTTCCG	0.378000													60	208					0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872757	51872757	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:51872757C>T	ENST00000371497.5	+	2	3647	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.D917D|TSHZ2_ENST00000329613.6_Silent_p.D917D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	920					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D920D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAACATGGACAAAGGCCACC	0.473000													17	82					0	0	0.006122	0	0
UCP2	7351	broad.mit.edu	37	11	73686562	73686562	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:73686562C>T	ENST00000310473.3	-	7	1631	c.789G>A	c.(787-789)aaG>aaA	p.K263K	UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	263					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	p.K263K(1)		large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGGGCCCCTCCTTCTGGAGCA	0.587000													27	136					0	0	0.010818	0	0
TNN	63923	broad.mit.edu	37	1	175092757	175092757	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:175092757G>A	ENST00000239462.4	+	12	2985	c.2872G>A	c.(2872-2874)Ggg>Agg	p.G958R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	958	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G958R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCCCAGAAGGGGGCCCAGGA	0.612000													14	108					0	0	0.004007	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455027	84455027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:84455027C>T	ENST00000377084.2	-	1	1501	c.616G>A	c.(616-618)Gag>Aag	p.E206K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	206						integral to membrane		p.E206K(1)		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)		AGCAGGATCTCCGCAATACCA	0.547000													12	90					0	0	0.010729	0	0
BRSK1	84446	broad.mit.edu	37	19	55816254	55816254	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:55816254G>A	ENST00000309383.1	+	14	1960	c.1683G>A	c.(1681-1683)ctG>ctA	p.L561L	BRSK1_ENST00000326848.7_Silent_p.L256L|BRSK1_ENST00000590333.1_Silent_p.L577L|BRSK1_ENST00000588584.1_3'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	561					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.L561L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACAGCTTCCTGGGCTCCCCTC	0.657000													20	42					0	0	0.014323	0	0
OBSCN	84033	broad.mit.edu	37	1	228466474	228466474	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:228466474G>T	ENST00000570156.2	+	31	8305	c.8231G>T	c.(8230-8232)cGg>cTg	p.R2744L	OBSCN_ENST00000422127.1_Missense_Mutation_p.R2315L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2315L|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1162L|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1745	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R2499L(1)|p.R2315L(1)|p.R2369L(1)|p.R2598L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGTGTCCCGGGCCAGCGCC	0.652000													10	50					0.00829132	0.00876207	0.008291	1	0
RGS4	5999	broad.mit.edu	37	1	163039278	163039278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:163039278T>A	ENST00000421743.2	+	2	455	c.295T>A	c.(295-297)Tgc>Agc	p.C99S	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Missense_Mutation_p.C2S|RGS4_ENST00000367909.6_Missense_Mutation_p.C2S|RGS4_ENST00000367908.4_Missense_Mutation_p.C2S|RGS4_ENST00000527809.1_Intron	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	2	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.C99S(1)|p.C2S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AAATAAGATGTGCAAAGGGCT	0.458000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	57					0	0	0.020292	0	0
PDZD4	57595	broad.mit.edu	37	X	153068961	153068961	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:153068961G>T	ENST00000164640.4	-	8	2348	c.2157C>A	c.(2155-2157)aaC>aaA	p.N719K	PDZD4_ENST00000393758.2_Missense_Mutation_p.N644K|PDZD4_ENST00000544474.1_Missense_Mutation_p.N610K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	719						cell cortex		p.N719K(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCAATGATGTTGAGCTCGG	0.622000													7	105					0.00307968	0.00331525	0.003080	1	0
AKAP12	9590	broad.mit.edu	37	6	151669913	151669913	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:151669913G>A	ENST00000402676.2	+	4	627	c.387G>A	c.(385-387)gcG>gcA	p.A129A	AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Silent_p.A129A|AKAP12_ENST00000354675.6_Silent_p.A31A|AKAP12_ENST00000359755.5_Silent_p.A24A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	129					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.A129A(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTAAGTCAGCGGTTGTTCACG	0.468000													8	86					0	0	0.006214	0	0
ABCB1	5243	broad.mit.edu	37	7	87179275	87179275	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:87179275G>T	ENST00000265724.3	-	14	1863	c.1446C>A	c.(1444-1446)acC>acA	p.T482T	ABCB1_ENST00000543898.1_Silent_p.T418T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	482	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.T482T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAGCTATCGTGGTGGCAAACA	0.433000													45	240					5.7616e-29	1.05874e-28	0.014410	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168296	10168296	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:10168296G>T	ENST00000396502.1	+	5	778	c.650G>T	c.(649-651)tGg>tTg	p.W217L	CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217L|RP11-133L14.5_ENST00000544225.1_RNA	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	217	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding	p.W217L(2)		central_nervous_system(2)|large_intestine(2)|lung(5)	9						AGTTGGTTCTGGGAAGATGGC	0.418000													30	101					2.08457e-15	3.44641e-15	0.010818	1	0
GP2	2813	broad.mit.edu	37	16	20331623	20331623	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:20331623G>T	ENST00000302555.5	-	5	968	c.819C>A	c.(817-819)acC>acA	p.T273T	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Silent_p.T129T|GP2_ENST00000381362.4_Silent_p.T276T|GP2_ENST00000341642.5_Silent_p.T126T			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	276	ZP.					anchored to membrane|extracellular region|plasma membrane		p.T273T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGACGGGGCTGGTCACAGATA	0.567000													12	129					0.000308642	0.000348506	0.003163	1	0
CTNNBL1	56259	broad.mit.edu	37	20	36488711	36488711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:36488711G>A	ENST00000405275.2	+	16	1730	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G336E|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G271E|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.G523E			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	523					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AACATGCGAGGAAGCTCCATC	0.448000													7	225					0	0	0.004482	0	0
GATAD2A	54815	broad.mit.edu	37	19	19576209	19576209	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:19576209C>G	ENST00000404158.1	+	4	473	c.55C>G	c.(55-57)Cca>Gca	p.P19A	GATAD2A_ENST00000358713.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000252577.5_Missense_Mutation_p.P19A|GATAD2A_ENST00000494516.1_3'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000537887.1_5'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	19					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P19A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TGAACGGGACCCAACAGAGGA	0.493000													26	134					0	0	0.005443	0	0
ESPNL	339768	broad.mit.edu	37	2	239013434	239013434	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:239013434C>G	ENST00000343063.3	+	3	886	c.623C>G	c.(622-624)gCc>gGc	p.A208G	ESPNL_ENST00000409169.1_Missense_Mutation_p.A208G	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	208								p.A208G(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCATGAGCGCCCTGCACGCT	0.672000													3	7					0	0	0.004672	0	0
MROH8	140699	broad.mit.edu	37	20	35737068	35737068	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:35737068C>A	ENST00000400441.3	-	23	2914		c.e23-1		MROH8_ENST00000441008.2_Splice_Site|MROH8_ENST00000217333.8_Splice_Site					maestro heat-like repeat family member 8									p.?(3)									GATAAAAGGCCTAAAGGCAGG	0.423000													6	35					1.06961e-07	1.39002e-07	0.003080	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155921320	155921320	+	Missense_Mutation	SNP	G	G	A	rs138090439	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:155921320G>A	ENST00000368316.1	-	23	2599	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.A739V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A710V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.A738V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A737V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	738					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.A710V(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCGCTGTAACGCCTCCTGAGG	0.562000													18	151					0	0	0.010504	0	0
MYLK	4638	broad.mit.edu	37	3	123419703	123419703	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:123419703C>A	ENST00000360772.3	-	19	2990	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V	MYLK_ENST00000359169.1_Missense_Mutation_p.G871V|MYLK_ENST00000360304.3_Missense_Mutation_p.G871V|MYLK_ENST00000346322.5_Missense_Mutation_p.G802V|MYLK_ENST00000475616.1_Missense_Mutation_p.G871V			Q15746	MYLK_HUMAN	myosin light chain kinase	871	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.G871V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCACCCCTCGCACGTC	0.652000													28	130					1.1423e-28	2.09241e-28	0.009535	1	0
FYCO1	79443	broad.mit.edu	37	3	46023127	46023127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:46023127C>A	ENST00000296137.2	-	3	302	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E33*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	33					transport	integral to membrane	metal ion binding|protein binding	p.E33*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGATGGGTTCCCCTGCTTCC	0.398000													15	136					1.37285e-15	2.27625e-15	0.004007	1	0
NOTCH1	4851	broad.mit.edu	37	9	139413994	139413994	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:139413994C>G	ENST00000277541.6	-	5	841	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	256					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	p.E256Q(2)		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)		TCGATATTTTCCTCACAGTTC	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			43	222					0	0	0.009718	0	0
KMT2C	58508	broad.mit.edu	37	7	151874497	151874497	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:151874497G>C	ENST00000355193.2	-	38	8259	c.8041C>G	c.(8041-8043)Cct>Gct	p.P2681A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2681A					lysine (K)-specific methyltransferase 2C									p.P2681A(2)									CCATCAGAAGGCTGGGTGGTT	0.428000													12	112					0	0	0.020292	0	0
SPINK8	646424	broad.mit.edu	37	3	48362530	48362530	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:48362530C>G	ENST00000434006.1	-	2	101	c.102G>C	c.(100-102)caG>caC	p.Q34H		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	34						extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTTTGTCTAGCTGACCTCTTT	0.478000													2	8					0	0	0.004672	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529464	5529464	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:5529464G>C	ENST00000311659.4	-	2	1472	c.1325C>G	c.(1324-1326)cCt>cGt	p.P442R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	442								p.P442R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAGATCAGGCAAGTTTGT	0.537000													19	135					0	0	0.007413	0	0
HTR3C	170572	broad.mit.edu	37	3	183773977	183773977	+	Missense_Mutation	SNP	C	C	A	rs149370364		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:183773977C>A	ENST00000318351.1	+	4	326	c.292C>A	c.(292-294)Cct>Act	p.P98T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	98						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P98T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGGACAATCCTTTCATTAA	0.478000													12	129					0.00010058	0.000115377	0.013537	1	0
BAG6	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:31612763C>T	ENST00000404765.2	-	10	1618	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	449	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.Q443Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTCCACACTCTGGTGGGAAA	0.587000													21	360					0	0	0.016522	0	0
HAS1	3036	broad.mit.edu	37	19	52222512	52222512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:52222512C>A	ENST00000540069.2	-	2	706	c.646G>T	c.(646-648)Gag>Tag	p.E216*	HAS1_ENST00000222115.1_Nonsense_Mutation_p.E217*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.E224*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.E71*			Q92839	HAS1_HUMAN	hyaluronan synthase 1	217					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.E217*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TACATGACCTCGCGCTTGCCG	0.662000													5	43					0.000602214	0.000668226	0.014758	1	0
COL4A6	1288	broad.mit.edu	37	X	107422549	107422549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:107422549C>A	ENST00000394872.2	-	26	2485	c.2254G>T	c.(2254-2256)Gac>Tac	p.D752Y	COL4A6_ENST00000545689.1_Missense_Mutation_p.D751Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D751Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.D751Y|COL4A6_ENST00000372216.4_Missense_Mutation_p.D752Y			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	752	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.D751Y(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAAAGATGTCACCAGTGGCT	0.547000									Alport syndrome with Diffuse Leiomyomatosis				13	135					5.50884e-06	6.66373e-06	0.013537	1	0
BRD8	10902	broad.mit.edu	37	5	137488440	137488440	+	Missense_Mutation	SNP	C	C	G	rs148605042	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:137488440C>G	ENST00000254900.5	-	21	2958	c.2587G>C	c.(2587-2589)Gag>Cag	p.E863Q		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	863					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.E863Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAACCCACTCGTGTCCCATC	0.438000													33	147					0	0	0.017118	0	0
ZEB2	9839	broad.mit.edu	37	2	145157678	145157678	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:145157678G>C	ENST00000558170.2	-	8	2260	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	ZEB2_ENST00000303660.4_Missense_Mutation_p.S359C|ZEB2_ENST00000539609.3_Missense_Mutation_p.S335C|ZEB2_ENST00000409487.3_Missense_Mutation_p.S359C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	359						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.S359C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTAGGAGAAGAAGAAACAGA	0.373000													18	61					0	0	0.006122	0	0
TG	7038	broad.mit.edu	37	8	133906105	133906105	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:133906105C>T	ENST00000220616.4	+	11	2972	c.2932C>T	c.(2932-2934)Ccc>Tcc	p.P978S	TG_ENST00000377869.1_Missense_Mutation_p.P978S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	978	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.P978S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTCTTCCCGCCCCGGGAGGC	0.602000													8	184					0	0	0.004482	0	0
CACNA1F	778	broad.mit.edu	37	X	49063289	49063289	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:49063289C>G	ENST00000376265.2	-	45	5353	c.5292G>C	c.(5290-5292)ggG>ggC	p.G1764G	CACNA1F_ENST00000323022.5_Silent_p.G1753G|CACNA1F_ENST00000376251.1_Silent_p.G1699G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1764					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G1764G(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACGGGGGAGTCCCTGCCTGCT	0.637000													12	77					0	0	0.003163	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268141	103268141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:103268141C>G	ENST00000217926.5	-	1	118	c.92G>C	c.(91-93)gGa>gCa	p.G31A		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	31					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.G31A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGAGGAAGGTCCAGCCATGGC	0.612000													4	29					0	0	0.009096	0	0
ADCY1	107	broad.mit.edu	37	7	45744158	45744158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:45744158G>T	ENST00000297323.7	+	17	2782	c.2760G>T	c.(2758-2760)aaG>aaT	p.K920N		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	920					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.K920N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGAAGATCAAGACCATCGGGA	0.502000													27	170					1.74807e-11	2.60629e-11	0.010818	1	0
PRKCQ	5588	broad.mit.edu	37	10	6527124	6527124	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:6527124C>T	ENST00000263125.5	-	10	1107	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	PRKCQ_ENST00000397176.2_Silent_p.P336P|PRKCQ_ENST00000539722.1_Silent_p.P211P	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	336					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P336P(3)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTCTTTTTCCCGGTGTCGGTA	0.433000													55	164					0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869878	140869878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140869878C>A	ENST00000252087.1	+	1	1071	c.1071C>A	c.(1069-1071)aaC>aaA	p.N357K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		357	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N357K(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGGCCAACCCTGTCCTAG	0.542000													14	86					2.35188e-11	3.47958e-11	0.006122	1	0
NID1	4811	broad.mit.edu	37	1	236187423	236187423	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:236187423T>A	ENST00000264187.6	-	9	2157	c.2075A>T	c.(2074-2076)cAg>cTg	p.Q692L	NID1_ENST00000366595.3_Missense_Mutation_p.Q692L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	692	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding	p.Q692L(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCAGGTGAACTGTGTCCTGGG	0.587000													6	55					0	0	0.004482	0	0
NRROS	375387	broad.mit.edu	37	3	196388131	196388131	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:196388131G>T	ENST00000328557.4	+	3	1820	c.1617G>T	c.(1615-1617)agG>agT	p.R539S		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species									p.R539S(1)									GGAATCTCAGGGACTTAGATC	0.567000													23	217					2.44723e-14	3.9007e-14	0.004656	1	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611702	44611702	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:44611702C>G	ENST00000273320.3	+	6	1529	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S367C	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7									p.S367C(1)									CCACCTCTGTCTTCCAGTCCT	0.378000													17	156					0	0	0.007413	0	0
FLG	2312	broad.mit.edu	37	1	152281162	152281162	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:152281162G>T	ENST00000368799.1	-	3	6235	c.6200C>A	c.(6199-6201)cCc>cAc	p.P2067H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P2067H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGATGGGGCCCAGCTTT	0.557000									Ichthyosis				92	482					2.0191e-50	3.8705e-50	0.014410	1	0
MYBL2	4605	broad.mit.edu	37	20	42340215	42340215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:42340215C>T	ENST00000217026.4	+	11	1820	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	MYBL2_ENST00000396863.4_Missense_Mutation_p.P541S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	565						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P565S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGACATCAGGCCCGAGAAGCA	0.632000													6	28					0	0	0.001984	0	0
CLNK	116449	broad.mit.edu	37	4	10492234	10492234	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:10492234A>G	ENST00000226951.6	-	19	1383	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	CLNK_ENST00000515667.1_Missense_Mutation_p.F120L	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	382	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.F382L(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						ACTGAATCAAACTTCTGAAAC	0.363000													2	10					0	0	0.004672	0	0
PRPF6	24148	broad.mit.edu	37	20	62612636	62612636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:62612636C>T	ENST00000535781.1	+	1	149	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	13					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.A13V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGGATGCCCGCGCCCCTCGGC	0.677000													5	15					0	0	0.004482	0	0
NEK5	341676	broad.mit.edu	37	13	52663447	52663447	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:52663447G>T	ENST00000355568.4	-	14	1350	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	404							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P461H(1)|p.P404H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTACTCAGCAGGCCTTAGAAA	0.328000													8	28					1.58986e-06	1.97705e-06	0.008291	1	0
SETD4	54093	broad.mit.edu	37	21	37429497	37429497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:37429497C>A	ENST00000399215.1	-	2	1451	c.79G>T	c.(79-81)Gag>Tag	p.E27*	SETD4_ENST00000399208.2_Nonsense_Mutation_p.E27*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.E27*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.E27*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	27								p.E27*(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TTGTGGCTCTCATTCACTATC	0.383000													19	109					4.96729e-08	6.52876e-08	0.008871	1	0
TDRD5	163589	broad.mit.edu	37	1	179562680	179562680	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:179562680G>T	ENST00000444136.1	+	3	568	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TDRD5_ENST00000294848.8_Missense_Mutation_p.K106N|TDRD5_ENST00000367614.1_Missense_Mutation_p.K106N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	106					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.K106N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAATGCATAAGGGAAGACCTA	0.453000													21	82					3.62473e-10	5.13875e-10	0.012319	1	0
LPHN3	23284	broad.mit.edu	37	4	62758472	62758472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:62758472G>T	ENST00000512091.1	+	9	2122	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	LPHN3_ENST00000508946.1_Missense_Mutation_p.V459L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V459L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V459L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V527L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V459L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V527L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V459L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V527L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V459L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CACCCCGTCAGTGTCAGGAAG	0.532000													14	89					1.3612e-06	1.70372e-06	0.003163	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161161242	161161242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:161161242C>A	ENST00000367996.4	-	9	2628	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	734	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.G734C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCATAGGAGCCATCTGGCAGC	0.622000													13	107					1.05317e-09	1.47138e-09	0.020292	1	0
FAT2	2196	broad.mit.edu	37	5	150923860	150923860	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:150923860G>T	ENST00000261800.5	-	9	6840	c.6828C>A	c.(6826-6828)gtC>gtA	p.V2276V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2276	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V2276V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGGTATAGACCAATTGGG	0.517000													28	133					5.61819e-17	9.451e-17	0.005443	1	0
CBLN2	147381	broad.mit.edu	37	18	70205991	70205991	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:70205991C>A	ENST00000269503.4	-	4	1147	c.374G>T	c.(373-375)gGc>gTc	p.G125V	CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9V|CBLN2_ENST00000585159.1_Missense_Mutation_p.G125V|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11V	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	125	C1q.					integral to membrane		p.G125F(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AAAGTGGTTGCCAATATTTAC	0.423000													14	98					7.93312e-07	9.97257e-07	0.020292	1	0
NCCRP1	342897	broad.mit.edu	37	19	39691004	39691004	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:39691004G>C	ENST00000339852.4	+	5	589	c.567G>C	c.(565-567)ctG>ctC	p.L189L		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	189	FBA.				protein catabolic process			p.L189L(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACAGCCGGCTGGATGCGTGCG	0.652000													41	108					0	0	0.014410	0	0
RILP	83547	broad.mit.edu	37	17	1551212	1551212	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:1551212G>A	ENST00000301336.6	-	6	1133	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	287	Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	p.L287L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATGGCCTCGAGCAGAAGGC	0.607000													5	88					0	0	0.003080	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897406	47897406	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:47897406T>A	ENST00000289672.2	-	28	4437	c.4387A>T	c.(4387-4389)Agc>Tgc	p.S1463C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1463	REJ.				cell-cell adhesion	integral to membrane		p.S1463C(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCCAGTGCTAACATGGTTC	0.478000													17	67					0	0	0.010504	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like.							p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562000													6	226					0	0	0.021553	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311549	103311549	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:103311549G>C	ENST00000233969.2	+	7	1705	c.1563G>C	c.(1561-1563)tgG>tgC	p.W521C	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	521						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.W521C(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GTGGACATTGGGGTCACAACT	0.373000													13	219					0	0	0.003163	0	0
GALR1	2587	broad.mit.edu	37	18	74962576	74962576	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr18:74962576G>A	ENST00000299727.3	+	1	72	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	24					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.G24G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGGAGCCCGGGCCGCTGTTCG	0.721000													3	6					0	0	0.004672	0	0
C2orf49	79074	broad.mit.edu	37	2	105959478	105959478	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:105959478C>G	ENST00000258457.2	+	3	669	c.440C>G	c.(439-441)tCg>tGg	p.S147W	C2orf49_ENST00000410049.1_Intron|C2orf49_ENST00000437250.2_Intron			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	147						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AATTCCTCTTCGAGTGTTTCA	0.393000													4	151					0	0	0.014758	0	0
BRINP3	339479	broad.mit.edu	37	1	190067913	190067913	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:190067913G>T	ENST00000367462.3	-	8	1767	c.1536C>A	c.(1534-1536)gcC>gcA	p.A512A	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.A410A	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		512						extracellular region		p.A512A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGATAAAAATGGCATGGACTT	0.463000													36	186					2.6416e-12	4.13063e-12	0.006230	1	0
SULT1C4	27233	broad.mit.edu	37	2	108998221	108998221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:108998221C>A	ENST00000272452.2	+	2	499	c.173C>A	c.(172-174)aCa>aAa	p.T58K	SULT1C4_ENST00000409309.3_Missense_Mutation_p.T58K	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	58					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.T58K(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACGTAAGGAACAACATGGACT	0.353000													19	94					1.01871e-10	1.46949e-10	0.008871	1	0
TMEM2	23670	broad.mit.edu	37	9	74305045	74305045	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:74305045G>A	ENST00000377044.4	-	22	4353	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	TMEM2_ENST00000396272.3_Missense_Mutation_p.R265C|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1209C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1272						integral to membrane		p.R1272C(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCTTCAATGCGACTGACATCA	0.488000													12	218					0	0	0.013537	0	0
CLVS1	157807	broad.mit.edu	37	8	62212572	62212572	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:62212572C>G	ENST00000519846.1	+	3	658	c.186C>G	c.(184-186)acC>acG	p.T62T	CLVS1_ENST00000325897.4_Silent_p.T62T|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	62					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.T62T(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGATCATCACCAGGCCTGACA	0.473000													10	47					0	0	0.016723	0	0
CHL1	10752	broad.mit.edu	37	3	440019	440019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:440019G>T	ENST00000256509.2	+	25	3846	c.3204G>T	c.(3202-3204)tgG>tgT	p.W1068C	CHL1_ENST00000397491.2_Missense_Mutation_p.W1052C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1052					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.W1068C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTAAGAATTGGGGCGATAATG	0.393000													6	89					3.27435e-08	4.36328e-08	0.020292	1	0
KCNA7	3743	broad.mit.edu	37	19	49573799	49573799	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:49573799G>T	ENST00000221444.1	-	2	1247	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	298						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L298M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		AAGATTTGCAGGCCCTTTGAG	0.597000													22	72					4.35082e-09	5.97719e-09	0.010504	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146818215	146818215	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:146818215G>T	ENST00000361727.3	+	6	1415	c.899G>T	c.(898-900)cGt>cTt	p.R300L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	300	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R300L(1)|p.R300H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCACTTCCGTACCAATGGA	0.483000										HNSCC(39;0.1)			12	61					1.36491e-13	2.16957e-13	0.016723	1	0
PABPC5	140886	broad.mit.edu	37	X	90690839	90690839	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:90690839C>T	ENST00000312600.3	+	2	477	c.263C>T	c.(262-264)cCa>cTa	p.P88L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	88	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.P88L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AATGGAAAACCATTCCGCCTT	0.473000													17	76					0	0	0.004007	0	0
AHNAK	79026	broad.mit.edu	37	11	62284435	62284435	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:62284435C>G	ENST00000378024.4	-	5	17728	c.17454G>C	c.(17452-17454)ggG>ggC	p.G5818G	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5818					nervous system development	nucleus	protein binding	p.G5818G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTCAGCTTCCCGTGTTTCC	0.517000													32	179					0	0	0.010818	0	0
FMNL1	752	broad.mit.edu	37	17	43323891	43323891	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:43323891C>T	ENST00000331495.3	+	26	3567	c.3231C>T	c.(3229-3231)ttC>ttT	p.F1077F	FMNL1_ENST00000328118.3_Intron|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Intron	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.F1077F(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGTGCCCTTCACGGCCCGCA	0.582000											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	81					0	0	0.008291	0	0
RNF128	79589	broad.mit.edu	37	X	106038880	106038880	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:106038880C>G	ENST00000255499.2	+	7	1474	c.1224C>G	c.(1222-1224)aaC>aaG	p.N408K	RNF128_ENST00000324342.3_Missense_Mutation_p.N382K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	408						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	p.N382K(1)|p.N408K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATGTTGACAACCCAACCTTTG	0.338000													18	264					0	0	0.010504	0	0
C1orf168	199920	broad.mit.edu	37	1	57209875	57209875	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:57209875A>G	ENST00000343433.6	-	10	1532	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	484								p.S484S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCGAGATGGAACTTGTCTTAG	0.418000													17	130					0	0	0.007413	0	0
FXR1	8087	broad.mit.edu	37	3	180685989	180685989	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:180685989C>T	ENST00000357559.4	+	14	1733	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000305586.7_Missense_Mutation_p.S365L|FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	450	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.S450L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGAAGTGTTTCAGGGGGTCGA	0.512000													13	48					0	0	0.020292	0	0
CDH23	64072	broad.mit.edu	37	10	73574861	73574861	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:73574861C>T	ENST00000224721.6	+	69	9911	c.9906C>T	c.(9904-9906)ctC>ctT	p.L3302L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L1057L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3297					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.L3302L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCACCGACCTCAACAGCCTGC	0.682000													3	15					0	0	0.004672	0	0
FLNC	2318	broad.mit.edu	37	7	128477288	128477288	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:128477288G>T	ENST00000325888.8	+	3	937	c.676G>T	c.(676-678)Gac>Tac	p.D226Y	FLNC_ENST00000346177.6_Missense_Mutation_p.D226Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	226	Actin-binding.|CH 2.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.D226Y(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGCAGGCCGACGACTGGCT	0.672000													3	11					1.024e-07	1.33979e-07	0.014758	1	0
CLN3	1201	broad.mit.edu	37	16	28488846	28488846	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:28488846C>T	ENST00000569430.1	-	17	2127	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	CLN3_ENST00000568224.1_Silent_p.Q358Q|CLN3_ENST00000395653.4_Silent_p.Q336Q|CLN3_ENST00000355477.5_Silent_p.Q388Q|CLN3_ENST00000354630.5_Silent_p.Q419Q|CLN3_ENST00000565316.1_Silent_p.Q419Q|CLN3_ENST00000333496.9_Silent_p.Q412Q|CLN3_ENST00000567963.1_Silent_p.Q339Q|CLN3_ENST00000535392.1_Silent_p.Q358Q|CLN3_ENST00000359984.7_Silent_p.Q436Q|CLN3_ENST00000360019.2_Silent_p.Q436Q|CLN3_ENST00000357857.9_Silent_p.Q382Q|CLN3_ENST00000357806.7_Silent_p.Q337Q			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	436					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.Q436Q(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ATCAGGAGAGCTGGCAGAGGA	0.612000													16	73					0	0	0.004007	0	0
TAF1L	138474	broad.mit.edu	37	9	32631299	32631299	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:32631299G>T	ENST00000242310.4	-	1	4368	c.4279C>A	c.(4279-4281)Cca>Aca	p.P1427T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1427	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.P1427T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCATTGACTGGAGTGTGGAAA	0.478000													89	285					4.78148e-37	8.9867e-37	0.014410	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209948	140209948	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140209948G>T	ENST00000529310.1	+	1	2386	c.2272G>T	c.(2272-2274)Gtg>Ttg	p.V758L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.V758L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCAGAGGGTGTGCTCCGG	0.637000													12	43					2.80697e-09	3.88399e-09	0.010729	1	0
OR10H4	126541	broad.mit.edu	37	19	16060156	16060156	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:16060156C>A	ENST00000322107.1	+	1	339	c.339C>A	c.(337-339)tcC>tcA	p.S113S		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S113S(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCACTCACTCCTTCCTTCTCC	0.532000													82	360					1.11057e-38	2.10098e-38	0.014410	1	0
GIPC3	126326	broad.mit.edu	37	19	3589536	3589536	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:3589536G>T	ENST00000322315.5	+	4	733	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	230								p.A230S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGGGGCTGCCACagtgga	0.597000													24	34					1.39806e-14	2.26595e-14	0.008361	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													6	30					0	0	0.006214	0	0
GRIN1	2902	broad.mit.edu	37	9	140058266	140058266	+	Silent	SNP	C	C	A	rs146086141	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:140058266C>A	ENST00000371561.3	+	18	3596	c.2499C>A	c.(2497-2499)atC>atA	p.I833I	GRIN1_ENST00000371550.4_Silent_p.I833I|GRIN1_ENST00000371546.4_Silent_p.I854I|GRIN1_ENST00000315048.3_Silent_p.I833I|GRIN1_ENST00000371553.3_Silent_p.I854I|GRIN1_ENST00000350902.5_Silent_p.I833I|GRIN1_ENST00000371555.4_Silent_p.I854I|GRIN1_ENST00000371560.3_Silent_p.I854I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Silent_p.I833I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	833					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	p.I833I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGATTTTCATCGAGATTGCCT	0.622000													24	86					1.33986e-20	2.33565e-20	0.004656	1	0
BMP10	27302	broad.mit.edu	37	2	69093486	69093486	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:69093486C>A	ENST00000295379.1	-	2	710	c.552G>T	c.(550-552)ctG>ctT	p.L184L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	184					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.L184L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ACACCAAGACCAGCATGTTTC	0.463000													14	99					4.3838e-07	5.57148e-07	0.016723	1	0
UNC13A	23025	broad.mit.edu	37	19	17759401	17759401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:17759401G>T	ENST00000428389.2	-	17	1918	c.1919C>A	c.(1918-1920)aCg>aAg	p.T640K	UNC13A_ENST00000550896.1_Missense_Mutation_p.T550K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T552K|UNC13A_ENST00000519716.2_Missense_Mutation_p.T552K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T552K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T552K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	552					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T552K(1)|p.T640K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGTGTGGCGTCGTGCACGA	0.617000													36	102					1.6237e-14	2.60243e-14	0.013114	1	0
ABCB7	22	broad.mit.edu	37	X	74273349	74273349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:74273349C>G	ENST00000253577.3	-	16	2142	c.2118G>C	c.(2116-2118)tgG>tgC	p.W706C	ABCB7_ENST00000373394.3_Missense_Mutation_p.W705C|ABCB7_ENST00000339447.4_Missense_Mutation_p.W665C	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	705	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.W706C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCTGTGTATGCCACATTTCTG	0.423000													6	40					0	0	0.021553	0	0
LONP1	9361	broad.mit.edu	37	19	5705941	5705941	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:5705941G>A	ENST00000360614.3	-	8	1366	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	LONP1_ENST00000585374.1_Silent_p.I289I|LONP1_ENST00000540670.2_Silent_p.I207I|LONP1_ENST00000593119.1_Silent_p.I339I|LONP1_ENST00000590729.1_Silent_p.I273I	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	403					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.I403I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCCTTCTTGATGATCTTTA	0.597000													42	153					0	0	0.014410	0	0
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.T21T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTATAAAGACGGAATGGAATT	0.493000													6	115					0	0	0.003080	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395169	109395169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:109395169C>A	ENST00000370001.3	-	2	386	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	AKNAD1_ENST00000369994.1_Missense_Mutation_p.G40C|AKNAD1_ENST00000369995.3_Missense_Mutation_p.G40C|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	40								p.G40C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACTTCAAGGCCATCCTTTTTT	0.403000													26	149					7.38237e-10	1.03389e-09	0.006320	1	0
SLA2	84174	broad.mit.edu	37	20	35262953	35262953	+	Missense_Mutation	SNP	G	G	A	rs145656453	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:35262953G>A	ENST00000262866.4	-	3	553	c.131C>T	c.(130-132)cCg>cTg	p.P44L	SLA2_ENST00000360672.2_Missense_Mutation_p.P44L	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	44	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	p.P44L(1)		endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCACCTGCCGGGAAACTGCC	0.567000													4	54					0	0	0.021553	0	0
DOCK10	55619	broad.mit.edu	37	2	225688308	225688308	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:225688308G>T	ENST00000409592.3	-	28	3188	c.3075C>A	c.(3073-3075)gtC>gtA	p.V1025V	DOCK10_ENST00000258390.7_Silent_p.V1031V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1031							GTP binding	p.V1029V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATAGGACCATGACAAGATTGT	0.413000													17	91					1.67942e-08	2.26407e-08	0.006122	1	0
C2CD5	9847	broad.mit.edu	37	12	22676358	22676358	+	Splice_Site	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:22676358A>C	ENST00000333957.4	-	7	1056		c.e7+1		C2CD5_ENST00000446597.1_Splice_Site|C2CD5_ENST00000544930.1_Splice_Site|C2CD5_ENST00000396028.2_Splice_Site|C2CD5_ENST00000545552.1_Splice_Site|C2CD5_ENST00000542676.1_Splice_Site|C2CD5_ENST00000536386.1_Splice_Site|C2CD5_ENST00000540703.1_Splice_Site	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.?(2)									ATTCATACTTACTCCTTCATT	0.363000													8	70					0	0	0.004482	0	0
PLAC1	10761	broad.mit.edu	37	X	133700520	133700520	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:133700520G>T	ENST00000359237.4	-	3	478	c.193C>A	c.(193-195)Cat>Aat	p.H65N	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	65					placenta development	extracellular region		p.H65N(1)		large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGCTGAACATGGTTTGGGGGG	0.502000													29	205					7.26314e-15	1.18052e-14	0.007291	1	0
CHD8	57680	broad.mit.edu	37	14	21870599	21870599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:21870599G>A	ENST00000399982.2	-	18	3842	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD8_ENST00000430710.3_Missense_Mutation_p.R981C|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.R1260C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1260	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R1260C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TAGGAATTACGAGTGATGAGG	0.473000													4	75					0	0	0.009096	0	0
IGFBP3	3486	broad.mit.edu	37	7	45957004	45957004	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:45957004G>T	ENST00000275521.6	-	2	571	c.438C>A	c.(436-438)gcC>gcA	p.A146A	IGFBP3_ENST00000381086.5_Silent_p.A49A|IGFBP3_ENST00000381083.4_Silent_p.A152A|IGFBP3_ENST00000465642.1_5'UTR	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	146	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.A146A(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CCACACTGCCGGCGCTGCGGT	0.498000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	109					2.94398e-08	3.94125e-08	0.007413	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102549392	102549392	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:102549392T>C	ENST00000334701.7	-	10	2381	c.2100A>G	c.(2098-2100)atA>atG	p.I700M	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.I399M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.I578M	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	578	Required for homodimerization.				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	p.I700M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTTTCTCCAATatgtctttca	0.373000													20	63					0	0	0.010504	0	0
SST	6750	broad.mit.edu	37	3	187387015	187387015	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:187387015C>T	ENST00000287641.3	-	2	296	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	63					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.T63T(2)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	CATCATTCTCCGTCTGGTTGG	0.517000													48	443					0	0	0.014410	0	0
ZNF445	353274	broad.mit.edu	37	3	44489616	44489616	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:44489616C>G	ENST00000425708.2	-	7	1888	c.1547G>C	c.(1546-1548)aGg>aCg	p.R516T	ZNF445_ENST00000396077.2_Missense_Mutation_p.R516T			P59923	ZN445_HUMAN	zinc finger protein 445	516					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R516T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCCACACACCCTACATTTAAA	0.448000													7	140					0	0	0.008291	0	0
RFT1	91869	broad.mit.edu	37	3	53160012	53160012	+	Splice_Site	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:53160012T>A	ENST00000296292.3	-	2	125		c.e2-2		RFT1_ENST00000394738.3_Splice_Site	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.?(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AAACAACACCTATAGAAAAAG	0.368000													4	23					0	0	0.009096	0	0
WISP2	8839	broad.mit.edu	37	20	43353577	43353577	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:43353577C>A	ENST00000372868.2	+	4	819	c.476C>A	c.(475-477)cCt>cAt	p.P159H	WISP2_ENST00000190983.4_Missense_Mutation_p.P159H|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	159	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	p.P159H(1)		skin(1)	1		Myeloproliferative disorder(115;0.0122)				AAGTGCTGCCCTGAGTGGGTG	0.716000													3	14					0.004672	0.00498289	0.004672	1	0
CDH9	1007	broad.mit.edu	37	5	26881265	26881265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:26881265C>A	ENST00000231021.4	-	12	2522	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	784					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D784Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCACTATCATCACCCCCATAC	0.418000													36	204					6.2361e-21	1.09369e-20	0.007835	1	0
TRIM9	114088	broad.mit.edu	37	14	51489622	51489622	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:51489622G>T	ENST00000298355.3	-	3	2093	c.972C>A	c.(970-972)atC>atA	p.I324I	TRIM9_ENST00000338969.5_Silent_p.I324I|TRIM9_ENST00000360392.4_Silent_p.I324I	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	324					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.I324I(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGAGGGCATCGATGAGGGCAT	0.537000													8	120					0.00829132	0.00876207	0.008291	1	0
YLPM1	56252	broad.mit.edu	37	14	75265213	75265213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:75265213G>T	ENST00000325680.7	+	5	3337	c.3213G>T	c.(3211-3213)aaG>aaT	p.K1071N	YLPM1_ENST00000238571.3_Missense_Mutation_p.K876N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	876	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.K1071N(1)|p.K876N(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTCGAGAGAAGATGAACAGAG	0.557000													18	97					5.3912e-06	6.54889e-06	0.006122	1	0
BTBD3	22903	broad.mit.edu	37	20	11903469	11903469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:11903469C>T	ENST00000405977.1	+	5	1349	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	BTBD3_ENST00000254977.3_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000399006.2_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000378226.2_Nonsense_Mutation_p.Q242*|BTBD3_ENST00000488503.1_3'UTR			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	242								p.Q242*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGACCTGACCCAGCGTTGCTG	0.537000													21	92					0	0	0.012319	0	0
FAM13B	51306	broad.mit.edu	37	5	137346774	137346774	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:137346774G>A	ENST00000033079.3	-	6	1064	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	FAM13B_ENST00000425075.2_Silent_p.L87L|FAM13B_ENST00000420893.2_Silent_p.L205L	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	205	Glu-rich.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L87L(1)|p.L205L(1)		endometrium(4)|kidney(2)|lung(5)	11						TAGTTTTCCAGAAGTCCAGCC	0.348000													15	122					0	0	0.020292	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660630	125660630	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:125660630T>C	ENST00000431078.1	+	22	3969	c.3605T>C	c.(3604-3606)aTg>aCg	p.M1202T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1202					cell adhesion|signal transduction	integral to membrane	receptor binding	p.M1202T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGGCTTCATGGTGGACTCA	0.532000													3	17					0	0	0.009096	0	0
BAI3	577	broad.mit.edu	37	6	70034795	70034795	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:70034795A>T	ENST00000370598.1	+	21	3667	c.2846A>T	c.(2845-2847)cAc>cTc	p.H949L	BAI3_ENST00000238918.8_Missense_Mutation_p.H155L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	949					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H949R(1)|p.H949L(1)		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)				GCATTTTTGCACTTTTTCTTC	0.423000													19	85					0	0	0.010504	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220370	10220370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:10220370G>T	ENST00000428358.1	+	6	749	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PPAN_ENST00000253107.7_Missense_Mutation_p.D193Y|PPAN_ENST00000556468.1_Missense_Mutation_p.D193Y|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.D193Y|PPAN_ENST00000393793.1_Missense_Mutation_p.D140Y	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		193	Brix.				RNA splicing	nucleolus	protein binding	p.D193Y(2)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAGGAGCTGGACTTCCGCCA	0.607000													73	151					1.43872e-54	2.76714e-54	0.014410	1	0
ATL1	51062	broad.mit.edu	37	14	51058280	51058280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:51058280G>A	ENST00000441560.2	+	5	926	c.445G>A	c.(445-447)Gga>Aga	p.G149R	ATL1_ENST00000357032.3_Missense_Mutation_p.G149R|ATL1_ENST00000358385.6_Missense_Mutation_p.G149R|ATL1_ENST00000354525.4_Missense_Mutation_p.G149R	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	149					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	p.G149R(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GGATACTCAGGGAACCTTTGA	0.358000													5	132					0	0	0.021553	0	0
CDRT1	374286	broad.mit.edu	37	17	15499942	15499942	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:15499942C>T	ENST00000455584.2	-	15	2563	c.2520G>A	c.(2518-2520)acG>acA	p.T840T	CDRT1_ENST00000354433.3_Silent_p.T30T|CDRT1_ENST00000395906.3_Silent_p.T530T|CDRT1_ENST00000583965.1_Silent_p.T30T														p.T30T(2)|p.T530T(2)									TGTGTCTAAACGTCTTCAGGC	0.507000													5	47					0	0	0.021553	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553151	140553151	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140553151G>A	ENST00000231137.3	+	1	909	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		245					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S245S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGCGGTCGCTCTACAAGG	0.542000													20	112					0	0	0.007413	0	0
SYNE2	23224	broad.mit.edu	37	14	64557634	64557634	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:64557634G>T	ENST00000357395.3	+	61	12143	c.999G>T	c.(997-999)gtG>gtT	p.V333V	SYNE2_ENST00000555002.1_Silent_p.V582V|SYNE2_ENST00000554584.1_Silent_p.V3981V|SYNE2_ENST00000344113.4_Silent_p.V3948V|SYNE2_ENST00000394768.2_Silent_p.V333V|SYNE2_ENST00000358025.3_Silent_p.V3948V|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3948					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.V3948V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGAGATAGTGTCTTACCAAG	0.383000													19	92					7.45023e-12	1.14026e-11	0.010504	1	0
GPR64	10149	broad.mit.edu	37	X	19046303	19046303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:19046303G>T	ENST00000379878.3	-	9	605	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	GPR64_ENST00000340581.3_Missense_Mutation_p.Q108K|GPR64_ENST00000379869.3_Missense_Mutation_p.Q138K|GPR64_ENST00000357991.3_Missense_Mutation_p.Q135K|GPR64_ENST00000379873.2_Missense_Mutation_p.Q138K|GPR64_ENST00000354791.3_Missense_Mutation_p.Q122K|GPR64_ENST00000356606.4_Missense_Mutation_p.Q124K|GPR64_ENST00000379876.1_Missense_Mutation_p.Q114K|GPR64_ENST00000360279.4_Missense_Mutation_p.Q116K|GPR64_ENST00000357544.3_Missense_Mutation_p.Q108K	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	138					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.Q135K(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AAACTTACCTGGGGAACAGTG	0.254000													15	70					0.000422831	0.000475582	0.004007	1	0
APOB	338	broad.mit.edu	37	2	21255418	21255418	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:21255418T>G	ENST00000233242.1	-	10	1287	c.1160A>C	c.(1159-1161)cAg>cCg	p.Q387P	APOB_ENST00000399256.4_Missense_Mutation_p.Q387P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	387	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.Q387T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCACTGAGGCTGTCCACACTG	0.507000													12	51					0	0	0.013537	0	0
GULP1	51454	broad.mit.edu	37	2	189406035	189406035	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:189406035G>T	ENST00000409580.1	+	8	1103	c.389G>T	c.(388-390)aGc>aTc	p.S130I	GULP1_ENST00000409609.1_Missense_Mutation_p.S130I|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409843.1_Missense_Mutation_p.S130I|GULP1_ENST00000409637.3_Missense_Mutation_p.S130I|GULP1_ENST00000410051.1_Missense_Mutation_p.S130I|GULP1_ENST00000409830.1_Missense_Mutation_p.S130I|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000359135.3_Missense_Mutation_p.S130I			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	130	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	p.S130I(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GTATTTGACAGCGAAAAGTGT	0.348000													17	134					2.35188e-11	3.47958e-11	0.006122	1	0
TFDP2	7029	broad.mit.edu	37	3	141671484	141671484	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:141671484G>A	ENST00000499676.2	-	13	1703	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	TFDP2_ENST00000310282.6_Silent_p.F344F|TFDP2_ENST00000495310.1_Silent_p.F307F|TFDP2_ENST00000477292.1_Silent_p.F268F|TFDP2_ENST00000486111.1_Silent_p.F344F|TFDP2_ENST00000467072.1_Silent_p.F344F|TFDP2_ENST00000397991.4_Silent_p.F376F|TFDP2_ENST00000489671.1_Silent_p.F404F|TFDP2_ENST00000479040.1_Silent_p.F343F|TFDP2_ENST00000317104.7_Silent_p.F328F	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	404					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	p.G402fs*22(1)|p.F404F(1)		kidney(1)|upper_aerodigestive_tract(2)	3						TTGGGGCCAGGAACTGCCCAG	0.502000													12	84					0	0	0.010729	0	0
JPH2	57158	broad.mit.edu	37	20	42815297	42815297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:42815297C>A	ENST00000372980.3	-	1	921	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C	JPH2_ENST00000342272.3_Missense_Mutation_p.G17C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	17	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G17C(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTCCCAGCCCCCGCAGTAC	0.642000													25	90					2.44723e-14	3.9007e-14	0.004656	1	0
MUSK	4593	broad.mit.edu	37	9	113510054	113510054	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:113510054A>T	ENST00000416899.2	+	7	1013	c.887A>T	c.(886-888)aAg>aTg	p.K296M	MUSK_ENST00000189978.5_Missense_Mutation_p.K296M|MUSK_ENST00000374448.4_Missense_Mutation_p.K296M			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	296	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K296M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTACTGCCAAGGCTGCAGCC	0.488000													18	46					0	0	0.012319	0	0
USH2A	7399	broad.mit.edu	37	1	216011423	216011423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:216011423G>T	ENST00000366943.2	-	47	9667	c.9281C>A	c.(9280-9282)gCc>gAc	p.A3094D	USH2A_ENST00000307340.3_Missense_Mutation_p.A3094D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3094	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A3094D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTCACGCAGGCATATATTGT	0.378000										HNSCC(13;0.011)			22	179					1.55795e-14	2.504e-14	0.012319	1	0
TMTC1	83857	broad.mit.edu	37	12	29669316	29669316	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:29669316G>A	ENST00000256062.5	-	15	2422	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.S782L|TMTC1_ENST00000551659.1_Missense_Mutation_p.S820L|TMTC1_ENST00000539277.1_Missense_Mutation_p.S758L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	758						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATAGATGGCTGACAAGAGGCG	0.453000													5	142					0	0	0.014758	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43624985	43624985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr9:43624985C>A	ENST00000332857.6	-	4	3730	c.3702G>T	c.(3700-3702)aaG>aaT	p.K1234N		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.K1234N(1)									GGGCTTGAAACTTCTGTTTGT	0.502000													38	304					9.73076e-26	1.75458e-25	0.006999	1	0
ARID5A	10865	broad.mit.edu	37	2	97217674	97217674	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:97217674A>T	ENST00000454558.2	+	7	2382	c.1205A>T	c.(1204-1206)gAt>gTt	p.D402V	ARID5A_ENST00000357485.3_Missense_Mutation_p.D470V			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.D470V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AAGGAGGCGGATGCCAAGAAG	0.672000													9	30					0	0	0.008291	0	0
KCTD3	51133	broad.mit.edu	37	1	215792539	215792539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:215792539C>T	ENST00000259154.4	+	17	2086	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	598						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.Q598*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTACTCGATCAATGTGATTT	0.408000													6	151					0	0	0.001984	0	0
PIWIL3	440822	broad.mit.edu	37	22	25121445	25121445	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:25121445C>G	ENST00000332271.5	-	17	2490	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E574Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E574Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	692	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.E692Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCACAAGCTCTTCTCCTGTT	0.438000													17	116					0	0	0.004990	0	0
ILDR2	387597	broad.mit.edu	37	1	166892002	166892002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:166892002T>A	ENST00000271417.3	-	8	1094	c.1039A>T	c.(1039-1041)Agc>Tgc	p.S347C	ILDR2_ENST00000525740.1_Missense_Mutation_p.S220C|ILDR2_ENST00000528703.1_Missense_Mutation_p.S288C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S347C|ILDR2_ENST00000529071.1_Missense_Mutation_p.S328C|ILDR2_ENST00000526687.1_Missense_Mutation_p.S239C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	347						integral to membrane		p.S347C(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGGAAATTGCTGTCCTCCTCA	0.478000													27	239					0	0	0.008361	0	0
DNAH9	1770	broad.mit.edu	37	17	11554419	11554419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:11554419G>T	ENST00000262442.3	+	13	2199	c.2131G>T	c.(2131-2133)Gaa>Taa	p.E711*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E711*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	711	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E711*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCTATCTTGAACCCAGAGA	0.438000													45	163					8.00217e-19	1.37418e-18	0.014410	1	0
GPRASP1	9737	broad.mit.edu	37	X	101910161	101910161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:101910161G>T	ENST00000537097.1	+	6	2133	c.1320G>T	c.(1318-1320)tgG>tgT	p.W440C	GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	440						cytoplasm	protein binding	p.W440F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTGGTTCTGGACTGAAGAAG	0.517000													20	202					1.15919e-05	1.39054e-05	0.008871	1	0
SLC27A6	28965	broad.mit.edu	37	5	128321030	128321030	+	Splice_Site	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:128321030G>A	ENST00000262462.4	+	2	1695		c.e2+1		SLC27A6_ENST00000506176.1_Splice_Site|SLC27A6_ENST00000395266.1_Splice_Site			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6						long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.?(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GGAACAACAGGTATGATCCAA	0.438000													10	39					0	0	0.008291	0	0
EPHA3	2042	broad.mit.edu	37	3	89445045	89445045	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:89445045G>C	ENST00000336596.2	+	6	1590	c.1365G>C	c.(1363-1365)ttG>ttC	p.L455F	EPHA3_ENST00000452448.2_Missense_Mutation_p.L455F|EPHA3_ENST00000494014.1_Missense_Mutation_p.L455F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	455	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding	p.L455F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCATCTCTTTGTCCTGGCAAG	0.453000										TSP Lung(6;0.00050)			48	242					0	0	0.014410	0	0
OR2T34	127068	broad.mit.edu	37	1	248737364	248737364	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:248737364C>A	ENST00000328782.2	-	1	716	c.695G>T	c.(694-696)aGg>aTg	p.R232M		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R232M(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGAATTCATCCTGTGGATGAG	0.547000													28	145					2.4375e-19	4.19832e-19	0.007291	1	0
IGFN1	91156	broad.mit.edu	37	1	201195156	201195156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:201195156G>T	ENST00000335211.4	+	22	10821	c.10691G>T	c.(10690-10692)gGc>gTc	p.G3564V	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.G3564V(1)|p.G724V(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCCTCCCCGGCCACGAATAC	0.667000													11	48					6.72482e-11	9.77386e-11	0.003163	1	0
HOXA3	3200	broad.mit.edu	37	7	27149789	27149789	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:27149789G>T	ENST00000396352.4	-	2	670	c.471C>A	c.(469-471)ccC>ccA	p.P157P	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P157P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	157					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P157P(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTTTCATCCAGGGGAAGATTT	0.572000													23	188					5.60225e-13	8.83196e-13	0.009535	1	0
ERMN	57471	broad.mit.edu	37	2	158181913	158181913	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:158181913C>A	ENST00000410096.1	-	1	533		c.e1+1		ERMN_ENST00000409925.1_Splice_Site|ERMN_ENST00000409216.1_Splice_Site|ERMN_ENST00000397283.2_Splice_Site|ERMN_ENST00000420719.2_Splice_Site	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein							cytoplasm|cytoskeleton		p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAACACTTTACCTTTTAGCAT	0.378000													13	96					6.81908e-15	1.11147e-14	0.020292	1	0
NEB	4703	broad.mit.edu	37	2	152387542	152387542	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:152387542A>T	ENST00000397345.3	-	145	21798	c.21596T>A	c.(21595-21597)cTg>cAg	p.L7199Q	NEB_ENST00000172853.10_Missense_Mutation_p.L5498Q|NEB_ENST00000604864.1_Missense_Mutation_p.L7199Q|NEB_ENST00000427231.2_Missense_Mutation_p.L7199Q|NEB_ENST00000603639.1_Missense_Mutation_p.L7199Q|NEB_ENST00000409198.1_Missense_Mutation_p.L5498Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5498					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.L7199Q(1)|p.L5498Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCGGACATGCAGCAACATGGG	0.423000													8	50					0	0	0.004482	0	0
COL4A5	1287	broad.mit.edu	37	X	107842032	107842032	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:107842032C>T	ENST00000328300.6	+	25	2124	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P627L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	627	Triple-helical region.			FGPP -> LALQ (in Ref. 5; AAA99480).	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P627L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTTTCGGCCCTCCAGGCCCA	0.517000									Alport syndrome with Diffuse Leiomyomatosis				12	120					0	0	0.020292	0	0
NF1	4763	broad.mit.edu	37	17	29653005	29653005	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr17:29653005G>T	ENST00000358273.4	+	37	5386	c.5003G>T	c.(5002-5004)gGc>gTc	p.G1668V	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.G1647V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1668	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.G1668V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTCCTGGCTTTGCTTAC	0.453000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			48	146					6.27289e-28	1.14178e-27	0.014410	1	0
FAM196A	642938	broad.mit.edu	37	10	128973656	128973656	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:128973656G>C	ENST00000522781.1	-	4	1559	c.1004C>G	c.(1003-1005)cCt>cGt	p.P335R	FAM196A_ENST00000424811.2_Missense_Mutation_p.P335R|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	335								p.P335R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGGGACTAGGCTGGTTCCC	0.597000													44	200					0	0	0.014410	0	0
IL21R	50615	broad.mit.edu	37	16	27445722	27445722	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:27445722G>T	ENST00000337929.3	+	3	577	c.104G>T	c.(103-105)tGc>tTc	p.C35F	IL21R_ENST00000395755.1_Missense_Mutation_p.C35F|IL21R_ENST00000395754.4_Missense_Mutation_p.C35F|IL21R_ENST00000564089.1_Missense_Mutation_p.C35F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	35					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.C35F(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACGGTCATCTGCATCCTGGAA	0.637000			T	BCL6	NHL								11	53					0.010729	0.0112557	0.010729	1	0
LIG1	3978	broad.mit.edu	37	19	48634422	48634422	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:48634422C>T	ENST00000263274.7	-	19	2151	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	LIG1_ENST00000536218.1_Missense_Mutation_p.A510T|LIG1_ENST00000427526.2_Missense_Mutation_p.A547T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	578					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.A578T(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCTTCCAGGGCGTGGATCTGT	0.577000								Nucleotide excision repair (NER)					26	57					0	0	0.006320	0	0
NETO2	81831	broad.mit.edu	37	16	47162416	47162416	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr16:47162416G>A	ENST00000562435.1	-	4	685	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	NETO2_ENST00000303155.5_Missense_Mutation_p.R101W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	101	CUB 1.					integral to membrane	receptor activity	p.R101W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TGATCAAACCGACACTCAAAT	0.398000										HNSCC(25;0.065)			18	214					0	0	0.004990	0	0
JAK3	3718	broad.mit.edu	37	19	17943472	17943472	+	Missense_Mutation	SNP	C	C	T	rs1052526		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:17943472C>T	ENST00000458235.1	-	19	2635	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	JAK3_ENST00000527670.1_Missense_Mutation_p.D846N|JAK3_ENST00000534444.1_Missense_Mutation_p.D846N	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	846	Protein kinase 2.			GD -> AH (in Ref. 1; AAA19626).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D846N(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCTGTATTGTCGCCTAGCGGG	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								10	187					0	0	0.010729	0	0
C10orf12	26148	broad.mit.edu	37	10	98741739	98741739	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:98741739G>C	ENST00000286067.2	+	1	699	c.592G>C	c.(592-594)Ggt>Cgt	p.G198R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	198								p.G198R(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTTTTCAATGGTGACTGTTG	0.418000													24	102					0	0	0.016522	0	0
MS4A5	64232	broad.mit.edu	37	11	60197159	60197159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:60197159C>A	ENST00000300190.2	+	1	98	c.12C>A	c.(10-12)agC>agA	p.S4R	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	4						integral to membrane	receptor activity	p.S4R(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TGGATTCAAGCACCGCACACA	0.453000													30	178					4.02929e-09	5.56196e-09	0.010818	1	0
RYR1	6261	broad.mit.edu	37	19	39075606	39075606	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:39075606G>T	ENST00000355481.4	+	101	14786	c.14655G>T	c.(14653-14655)gtG>gtT	p.V4885V	RYR1_ENST00000359596.3_Silent_p.V4890V|RYR1_ENST00000360985.3_Silent_p.V4885V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4890					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V4890V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGTACGTGGGTGTCCGGG	0.577000													35	77					1.66425e-11	2.48775e-11	0.021022	1	0
IL23R	149233	broad.mit.edu	37	1	67685289	67685289	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:67685289G>T	ENST00000347310.5	+	7	1002	c.831G>T	c.(829-831)gtG>gtT	p.V277V	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_Silent_p.V277V|IL23R_ENST00000395227.1_Silent_p.V22V	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	277	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.V277V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTACATATGTGCAACAGTCAG	0.343000													26	72					5.45024e-15	8.90875e-15	0.018920	1	0
NPAP1	23742	broad.mit.edu	37	15	24921196	24921196	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr15:24921196C>A	ENST00000329468.2	+	1	656	c.182C>A	c.(181-183)gCa>gAa	p.A61E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.A61E(1)									AGGCCTTCAGCAGCCAGCATC	0.736000													5	26					0.00448238	0.00480731	0.004482	1	0
TTC17	55761	broad.mit.edu	37	11	43413371	43413371	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:43413371G>T	ENST00000039989.4	+	5	546	c.531_splice	c.e5-1	p.G178_splice	TTC17_ENST00000299240.6_Splice_Site_p.G178_splice|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	178							binding	p.G178C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCTCTTCAGGGTGTACAGGA	0.318000													5	73					0.00116845	0.00127447	0.021553	1	0
GLI3	2737	broad.mit.edu	37	7	42088288	42088288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:42088288C>A	ENST00000395925.3	-	5	565	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	161					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A161S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTAGATAAGGCGGAAGTCCTG	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	42					2.17888e-05	2.58154e-05	0.006214	1	0
TRPM2	7226	broad.mit.edu	37	21	45825813	45825813	+	Missense_Mutation	SNP	G	G	T	rs147919263		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr21:45825813G>T	ENST00000397928.1	+	18	3128	c.2683G>T	c.(2683-2685)Ggg>Tgg	p.G895W	TRPM2_ENST00000397932.2_Missense_Mutation_p.G895W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.G895W|TRPM2_ENST00000300481.9_Missense_Mutation_p.G875W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	895						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.G895W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGTACCCCGGGCGCGTCAT	0.617000													42	180					6.68952e-21	1.16965e-20	0.013114	1	0
SLC32A1	140679	broad.mit.edu	37	20	37353584	37353584	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:37353584G>A	ENST00000217420.1	+	1	480	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	73					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.E73K(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)	CTGCGGGGACGAGGGCGCTGA	0.677000													12	88					0	0	0.003163	0	0
MS4A1	931	broad.mit.edu	37	11	60229879	60229879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:60229879C>A	ENST00000534668.1	+	2	321	c.32C>A	c.(31-33)aCt>aAt	p.T11N	MS4A1_ENST00000532073.1_Missense_Mutation_p.T11N|MS4A1_ENST00000345732.4_Missense_Mutation_p.T11N|MS4A1_ENST00000528313.1_Missense_Mutation_p.T11N|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.T11N	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	11					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GTAAATGGGACTTTCCCGGCA	0.433000													11	100					3.07112e-06	3.77029e-06	0.010729	1	0
NAT10	55226	broad.mit.edu	37	11	34160792	34160792	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:34160792G>T	ENST00000257829.3	+	22	2472	c.2266G>T	c.(2266-2268)Gat>Tat	p.D756Y	NAT10_ENST00000531159.2_Missense_Mutation_p.D684Y|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	756	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.D756Y(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CACTGATGAGGATGAGGCTGA	0.557000													21	121					4.26978e-12	6.58733e-12	0.018920	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120308016	120308016	+	Splice_Site	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:120308016G>C	ENST00000397843.2	+	12	1090		c.e12-1		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTTTCATTAGAGTCCCAAGA	0.348000			T	MLL	AML								3	65					0	0	0.009096	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766609	171766609	+	Silent	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:171766609T>A	ENST00000311601.5	-	13	1670	c.1500A>T	c.(1498-1500)tcA>tcT	p.S500S	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	500					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.S500S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGACATGTCTGAAGATGCCT	0.592000													33	156					0	0	0.019004	0	0
ADH1B	125	broad.mit.edu	37	4	100239987	100239987	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr4:100239987C>A	ENST00000394887.3	-	0	142				ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000305046.8_Missense_Mutation_p.E25D	NM_000668.4	NP_000659.2	P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.E25D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTCCACATCCTCAATGGAAA	0.368000													21	108					1.50039e-11	2.24864e-11	0.012319	1	0
CCDC146	57639	broad.mit.edu	37	7	76891577	76891577	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:76891577G>A	ENST00000285871.4	+	9	1253	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	CCDC146_ENST00000431197.1_Missense_Mutation_p.D122N|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	376								p.D376N(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGTGTCCTGGGATGCACTTAG	0.408000													27	141					0	0	0.006320	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588987	140588987	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140588987T>C	ENST00000239450.2	+	1	697	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		170	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Y170H(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTAAAAAGCTACACAATAAA	0.393000													22	120					0	0	0.010504	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509707	106509707	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:106509707C>T	ENST00000359195.3	+	2	2011	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	PIK3CG_ENST00000440650.2_Silent_p.L567L|PIK3CG_ENST00000496166.1_Silent_p.L567L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	567					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.L567L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTAACCCTCTCACAGCAGAGG	0.502000													24	90					0	0	0.016522	0	0
ZBED4	9889	broad.mit.edu	37	22	50277987	50277987	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr22:50277987C>G	ENST00000216268.4	+	2	1154	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	226						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.S226C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGAGGAGTCTGTGTCTGTA	0.557000													15	103					0	0	0.004007	0	0
TGM4	7047	broad.mit.edu	37	3	44943081	44943081	+	Silent	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:44943081A>C	ENST00000296125.4	+	7	791	c.723A>C	c.(721-723)acA>acC	p.T241T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	241					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T241T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AAGGTGGCACAGCCCCATACA	0.592000													4	30					0	0	0.014758	0	0
FRMPD3	84443	broad.mit.edu	37	X	106765704	106765704	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:106765704G>T	ENST00000276185.4	+	1	25	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	9						cytoskeleton		p.V9F(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TAGCCAGAGGGTCCAGGACCG	0.577000													8	52					7.48243e-07	9.44718e-07	0.006214	1	0
MAP3K15	389840	broad.mit.edu	37	X	19398322	19398322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:19398322C>A	ENST00000338883.4	-	19	2504	c.2505G>T	c.(2503-2505)tgG>tgT	p.W835C	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.W270C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.W667C	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	835	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.W310C(1)|p.W882C(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCCCAGGGACCAGATATCGG	0.542000													6	21					2.17888e-05	2.58154e-05	0.006214	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327846	88327846	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr13:88327846G>T	ENST00000325089.6	+	2	422	c.203G>T	c.(202-204)cGg>cTg	p.R68L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	68						integral to membrane		p.R68L(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTGAAAACCGGGGGATCATC	0.458000													69	261					1.72039e-30	3.18162e-30	0.014410	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146362	5146362	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:5146362C>A	ENST00000274181.7	+	3	433	c.295C>A	c.(295-297)Ctt>Att	p.L99I	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L99I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	99					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L99I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCTCTTCACCTTCGGCTGAA	0.562000													46	98					1.62263e-30	3.01047e-30	0.014410	1	0
FAM32A	26017	broad.mit.edu	37	19	16301759	16301759	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:16301759C>T	ENST00000263384.7	+	4	357	c.332C>T	c.(331-333)aCg>aTg	p.T111M	FAM32A_ENST00000589852.1_Missense_Mutation_p.T91M|FAM32A_ENST00000588367.1_Missense_Mutation_p.T93M	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	111						nucleolus		p.T111M(1)		lung(1)	1						GTCAGCTGGACGAAGTAGCCG	0.557000													7	64					0	0	0.003080	0	0
MALAT1	378938	broad.mit.edu	37	11	65270568	65270568	+	RNA	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:65270568C>G	ENST00000534336.1	+	0	5336					NR_002819.2																						TGCTGTGTGCCAATGTTTCGT	0.408000													3	11					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100683920	100683920	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr7:100683920A>T	ENST00000306151.4	+	3	9287	c.9223A>T	c.(9223-9225)Agt>Tgt	p.S3075C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3075	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3075C(1)		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)					TGACTCCAACAGTCCTGTGGT	0.473000													88	210					0	0	0.014410	0	0
TYR	7299	broad.mit.edu	37	11	88911297	88911297	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:88911297T>A	ENST00000263321.5	+	1	678	c.176T>A	c.(175-177)cTt>cAt	p.L59H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	59					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L59H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGAATATCCTTCTGTCCAAT	0.547000													11	48					0	0	0.010729	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904139	144904139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:144904139C>T	ENST00000370490.1	+	1	4451	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Q66*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	66						integral to membrane		p.Q66*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAATCTATCAGCTTTTTCT	0.433000													26	157					0	0	0.004656	0	0
NUF2	83540	broad.mit.edu	37	1	163309231	163309231	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:163309231A>G	ENST00000271452.3	+	8	849	c.570A>G	c.(568-570)ctA>ctG	p.L190L	NUF2_ENST00000524800.1_Silent_p.L190L|NUF2_ENST00000367900.3_Silent_p.L190L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	190	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.L190L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTCAGGAGCTACAACAATCAC	0.353000													5	61					0	0	0.014758	0	0
SEPT6	23157	broad.mit.edu	37	X	118783987	118783987	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:118783987G>A	ENST00000394610.1	-	5	867	c.603C>T	c.(601-603)atC>atT	p.I201I	SEPT6_ENST00000394617.2_Silent_p.I231I|SEPT6_ENST00000354228.4_Silent_p.I201I|SEPT6_ENST00000360156.7_Silent_p.I201I|SEPT6_ENST00000354416.3_Silent_p.I201I|SEPT6_ENST00000489216.1_Silent_p.I201I|SEPT6_ENST00000343984.5_Silent_p.I201I|SEPT6_ENST00000394616.4_Silent_p.I143I	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	201					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.I201I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCGCTGGTGATTTTGATTT	0.488000			T	MLL	AML								50	280					0	0	0.014410	0	0
DYTN	391475	broad.mit.edu	37	2	207527706	207527706	+	Silent	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:207527706T>C	ENST00000452335.2	-	11	1670	c.1554A>G	c.(1552-1554)agA>agG	p.R518R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	518						plasma membrane	zinc ion binding	p.R518R(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GCTCATCCTTTCTCTCCTTGA	0.463000													10	162					0	0	0.010729	0	0
FSTL1	11167	broad.mit.edu	37	3	120122105	120122105	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr3:120122105G>T	ENST00000295633.3	-	8	1034	c.678C>A	c.(676-678)ttC>ttA	p.F226L	FSTL1_ENST00000424703.2_Missense_Mutation_p.F191L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	226	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	p.F226L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CAGGAGGGTTGAAAGATGGGT	0.448000													10	100					0.00829132	0.00876207	0.008291	1	0
STARD8	9754	broad.mit.edu	37	X	67937356	67937356	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:67937356C>A	ENST00000252336.6	+	5	732	c.360C>A	c.(358-360)gcC>gcA	p.A120A	STARD8_ENST00000374597.3_Silent_p.A120A|STARD8_ENST00000374599.3_Silent_p.A200A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	120					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A120A(2)|p.A200A(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGGACAAAGCCAAGAAGCGCC	0.632000													12	107					0.00136819	0.00148952	0.013537	1	0
DPYS	1807	broad.mit.edu	37	8	105436574	105436574	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr8:105436574C>A	ENST00000351513.2	-	7	1268	c.1136G>T	c.(1135-1137)aGc>aTc	p.S379I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	379					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.S379I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCATTTGTGCTGGTAACTGC	0.358000													7	119					0.00198382	0.00215567	0.001984	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147040887	147040887	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:147040887T>C	ENST00000265272.5	-	3	718	c.251A>G	c.(250-252)gAg>gGg	p.E84G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E42G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E84G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	84						Golgi apparatus		p.E84G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGCAGCTCCTTCATCTT	0.532000													70	348					0	0	0.014410	0	0
BMP5	653	broad.mit.edu	37	6	55638990	55638990	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:55638990T>C	ENST00000370830.3	-	4	1582	c.884A>G	c.(883-885)cAg>cGg	p.Q295R	BMP5_ENST00000446683.2_Missense_Mutation_p.Q295R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	295					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.Q295R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGTTTTGACTGAGGTCCCTG	0.418000													18	101					0	0	0.007413	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552161	228552161	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:228552161C>A	ENST00000258403.3	-	6	1514	c.1443G>T	c.(1441-1443)gtG>gtT	p.V481V	SLC19A3_ENST00000541617.1_Silent_p.V477V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	481					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.V481V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTGGGTGAGACACATCTGGAT	0.403000													26	129					3.65163e-15	6.00282e-15	0.006320	1	0
SEMG2	6407	broad.mit.edu	37	20	43851907	43851907	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:43851907G>T	ENST00000372769.3	+	2	1724	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	545	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R545I(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAAAAGGCAGATACAAACAG	0.373000													17	98					1.37285e-15	2.27625e-15	0.004007	1	0
PDCD2	5134	broad.mit.edu	37	6	170887973	170887973	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:170887973C>G	ENST00000541970.1	-	5	926	c.848G>C	c.(847-849)tGt>tCt	p.C283S	PDCD2_ENST00000542896.1_Missense_Mutation_p.C283S|PDCD2_ENST00000392090.2_Missense_Mutation_p.C250S	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	283					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.C283S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CTTGGCACCACAGGGGCAATC	0.363000													6	108					0	0	0.003080	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580836	40580836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr19:40580836C>A	ENST00000450241.2	-	6	1722	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.E506*|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.E505*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.E505*|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.E506*|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E471*(1)|p.E506*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCCCACACTCCTTACATTCA	0.423000													27	93					0.000117367	0.000134367	0.005443	1	0
ICA1L	130026	broad.mit.edu	37	2	203682164	203682164	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:203682164A>C	ENST00000392237.2	-	7	818	c.661T>G	c.(661-663)Tct>Gct	p.S221A	ICA1L_ENST00000358299.2_Missense_Mutation_p.S221A	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	221	AH.							p.S221A(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCGAATGAGATAGCATATTG	0.408000													4	103					0	0	0.014758	0	0
KCNMA1	3778	broad.mit.edu	37	10	78704598	78704598	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr10:78704598C>A	ENST00000286627.5	-	22	3613	c.2661G>T	c.(2659-2661)ttG>ttT	p.L887F	KCNMA1_ENST00000406533.3_Missense_Mutation_p.L949F|KCNMA1_ENST00000286628.8_Missense_Mutation_p.L945F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.L887F|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L928F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.L887F|KCNMA1_ENST00000354353.5_Missense_Mutation_p.L948F|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.L945F|RP11-443A13.5_ENST00000600782.1_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	945					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.L949F(1)|p.L887F(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGAGTGACGCCAAGATGCATT	0.448000													15	71					1.49906e-05	1.7908e-05	0.020292	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060939	35060939	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:35060939C>A	ENST00000373913.3	+	3	1299	c.819C>A	c.(817-819)ccC>ccA	p.P273P	DLGAP4_ENST00000339266.5_Silent_p.P273P|DLGAP4_ENST00000373907.2_Silent_p.P273P|DLGAP4_ENST00000401952.2_Silent_p.P273P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	273	Poly-Pro.				cell-cell signaling	membrane	protein binding	p.P273P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGCCCGCACCCCCAGCCACCT	0.627000													8	18					0.000673444	0.00074583	0.008291	1	0
ABCB9	23457	broad.mit.edu	37	12	123444365	123444365	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr12:123444365C>T	ENST00000542678.1	-	2	3256	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	ABCB9_ENST00000442028.2_Missense_Mutation_p.V140M|ABCB9_ENST00000280560.8_Missense_Mutation_p.V140M|ABCB9_ENST00000344275.7_Missense_Mutation_p.V140M|ABCB9_ENST00000540285.1_Missense_Mutation_p.V140M|ABCB9_ENST00000346530.5_Missense_Mutation_p.V140M|ABCB9_ENST00000442833.2_Missense_Mutation_p.V140M|ABCB9_ENST00000392439.3_Missense_Mutation_p.V140M			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	140					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.V140M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCTGGCCGCACGGTGGACAGC	0.716000													4	17					0	0	0.021553	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910160	101910160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chrX:101910160G>T	ENST00000537097.1	+	6	2132	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	440						cytoplasm	protein binding	p.W440F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTTGGTTCTGGACTGAAGAA	0.517000													20	203					1.15919e-05	1.39054e-05	0.008871	1	0
NPR3	4883	broad.mit.edu	37	5	32712141	32712141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:32712141G>T	ENST00000265074.8	+	1	602	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.G87W	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	87					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.G87W(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGGCAACGGGACTGGGAG	0.637000													14	61					5.03518e-11	7.39262e-11	0.007413	1	0
LRFN5	145581	broad.mit.edu	37	14	42356876	42356876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:42356876A>T	ENST00000554171.1	+	5	3480	c.1048A>T	c.(1048-1050)Aag>Tag	p.K350*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K350*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K350*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	350	Ig-like.					integral to membrane		p.K350*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CACAACTGTAAAGGATACAGG	0.393000										HNSCC(30;0.082)			33	149					0	0	0.012213	0	0
CD1E	913	broad.mit.edu	37	1	158325255	158325255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:158325255G>T	ENST00000444681.2	+	2	517	c.224G>T	c.(223-225)cGc>cTc	p.R75L	CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	174					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.R174L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGCTCAATCGCTACCTAGAT	0.507000													16	134					0.000422831	0.000475582	0.004007	1	0
ONECUT2	9480	broad.mit.edu	37	18	55103683	55103683	+	Silent	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:55103683T>C	ENST00000491143.2	+	1	767	c.735T>C	c.(733-735)agT>agC	p.S245S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	245					organ morphogenesis	nucleus	sequence-specific DNA binding	p.S245S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCAGCAGAGTCTGCCCAACT	0.677000													9	54					0	0	0.013537	0	0
UTP6	55813	broad.mit.edu	37	17	30207635	30207635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:30207635C>A	ENST00000261708.4	-	11	1061	c.924G>T	c.(922-924)agG>agT	p.R308S	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	308					rRNA processing	nucleolus	binding	p.R308S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CAGCACAGCACCTCTCCTCCT	0.478000													53	231					1.33661e-31	2.5003e-31	0.014410	1	0
SPTA1	6708	broad.mit.edu	37	1	158609396	158609396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:158609396C>A	ENST00000368148.3	-	35	5136	c.4956G>T	c.(4954-4956)ttG>ttT	p.L1652F	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1652F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1652					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	p.L1652F(1)		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)					TCTCTCTCTCCAATAGCTGAT	0.483000													18	139					1.96895e-08	2.64007e-08	0.016522	1	0
MICAL3	57553	broad.mit.edu	37	22	18301586	18301586	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:18301586G>A	ENST00000441493.2	-	26	4193	c.3841C>T	c.(3841-3843)Cgc>Tgc	p.R1281C		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1281	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R1281C(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTGGAAGCGTATGGGGGAC	0.672000													15	100					0	0	0.028581	0	0
MUC17	140453	broad.mit.edu	37	7	100685523	100685523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100685523C>A	ENST00000306151.4	+	3	10890	c.10826C>A	c.(10825-10827)aCt>aAt	p.T3609N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3609	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3609N(1)		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)					CCTGTGACCACTTCTACTCAG	0.463000													23	189					1.04121e-07	1.36198e-07	0.027356	1	0
ASMT	438	broad.mit.edu	37	X	1755382	1755382	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:1755382G>T	ENST00000381241.3	+	8	1038	c.839G>T	c.(838-840)aGg>aTg	p.R280M	ASMT_ENST00000381233.3_Missense_Mutation_p.R205M|ASMT_ENST00000381229.4_Missense_Mutation_p.R252M	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	252					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	p.R280M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCTGGCCAGGGTCCTCCAT	0.552000													69	255					5.43229e-20	9.43596e-20	0.014410	1	0
A4GNT	51146	broad.mit.edu	37	3	137843529	137843529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:137843529G>T	ENST00000236709.3	-	3	801	c.600C>A	c.(598-600)caC>caA	p.H200Q		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	200					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.H200Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAAAGGGGTGGTGGGGGAGGA	0.493000													18	162					1.67942e-08	2.26319e-08	0.006122	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573608	140573608	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140573608G>T	ENST00000239446.4	+	1	1667	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		495	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.D495Y(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGCCCCAAGACCCGCACCT	0.672000													13	185					6.31663e-08	8.28283e-08	0.024245	1	0
ACE	1636	broad.mit.edu	37	17	61568578	61568578	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:61568578G>T	ENST00000577647.1	+	8	1071	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	ACE_ENST00000290863.6_Silent_p.T342T|ACE_ENST00000290866.4_Silent_p.T916T|ACE_ENST00000413513.3_Silent_p.T342T|ACE_ENST00000490216.2_Silent_p.T342T|ACE_ENST00000428043.1_Silent_p.T916T|ACE_ENST00000421982.2_Silent_p.T162T			P12821	ACE_HUMAN	angiotensin I converting enzyme	916	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.T916T(1)|p.T342T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCTGGACGCCCAGGAGGA	0.617000													16	54					0.006122	0.00651148	0.006122	1	0
PMFBP1	83449	broad.mit.edu	37	16	72188209	72188209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:72188209C>A	ENST00000537465.1	-	4	473	c.315G>T	c.(313-315)caG>caT	p.Q105H	PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q105H|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	105								p.Q105H(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGTAAGAAGTCTGCAACTCCT	0.458000													40	182					4.32679e-17	7.34868e-17	0.027894	1	0
KCNH7	90134	broad.mit.edu	37	2	163230172	163230172	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:163230172C>A	ENST00000332142.5	-	15	3231	c.3131_splice	c.e15-1	p.R1044_splice		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1044					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R1044S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGGATTCAAGCCTACAGAACA	0.423000													7	44					5.18039e-06	6.2846e-06	0.003080	1	0
LRRC6	23639	broad.mit.edu	37	8	133673705	133673705	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:133673705C>A	ENST00000519595.1	-	2	277		c.e2+1		LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm		p.?(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGAAACTTACCAATTTTCCC	0.318000													9	37					2.52707e-12	3.96476e-12	0.006214	1	0
RGAG4	340526	broad.mit.edu	37	X	71350872	71350872	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:71350872G>A	ENST00000545866.1	-	1	886	c.519C>T	c.(517-519)ttC>ttT	p.F173F	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.F173F			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	173								p.F246F(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGTCGGCTATGAAGGTCTCTA	0.602000													11	40					0	0	0.013537	0	0
MICAL3	57553	broad.mit.edu	37	22	18300618	18300618	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:18300618G>A	ENST00000441493.2	-	26	5161	c.4809C>T	c.(4807-4809)tcC>tcT	p.S1603S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1603						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1603S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTCTTCACGGACTTCTCCC	0.692000													6	25					0	0	0.001984	0	0
PLCD4	84812	broad.mit.edu	37	2	219495489	219495489	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:219495489G>A	ENST00000450993.2	+	9	1575	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	PLCD4_ENST00000417849.1_Silent_p.L412L|PLCD4_ENST00000432688.1_Silent_p.L412L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	412	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L412L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCACCACCTTGGATGGGGTGC	0.637000													6	52					0	0	0.021553	0	0
HK3	3101	broad.mit.edu	37	5	176308746	176308746	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:176308746C>T	ENST00000292432.5	-	17	2431	c.2340G>A	c.(2338-2340)caG>caA	p.Q780Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	780	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q780Q(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAAGGCGCTGGATCTGCT	0.542000													33	171					0	0	0.015359	0	0
CXorf56	63932	broad.mit.edu	37	X	118673720	118673720	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:118673720C>A	ENST00000320339.4	-	7	763	c.492G>T	c.(490-492)aaG>aaT	p.K164N	CXorf56_ENST00000486230.1_Missense_Mutation_p.K213N|CXorf56_ENST00000476164.1_Missense_Mutation_p.K213N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K213N|CXorf56_ENST00000536133.1_Missense_Mutation_p.K199N|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	213							protein binding	p.K213N(1)		cervix(1)|endometrium(2)|lung(7)	10						TCAAGGTCCCCTTCATTTTCG	0.368000													7	57					0.00307968	0.00330849	0.003080	1	0
COL6A2	1292	broad.mit.edu	37	21	47542060	47542060	+	Silent	SNP	C	C	T	rs112197239	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:47542060C>T	ENST00000300527.4	+	19	1664	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	COL6A2_ENST00000409416.1_Silent_p.P520P|COL6A2_ENST00000357838.4_Silent_p.P520P|COL6A2_ENST00000310645.5_Silent_p.P520P|COL6A2_ENST00000397763.1_Silent_p.P520P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	520	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCAGGACCCCGAGGAGCAC	0.642000													3	35					0	0	0.004672	0	0
STK10	6793	broad.mit.edu	37	5	171479999	171479999	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:171479999C>A	ENST00000176763.5	-	18	3043	c.2700G>T	c.(2698-2700)aaG>aaT	p.K900N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	900							ATP binding|protein serine/threonine kinase activity	p.K900N(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCCAGGGCCTTCAGTTTCT	0.542000													17	66					3.62473e-10	5.14385e-10	0.012319	1	0
VCPKMT	79609	broad.mit.edu	37	14	50583010	50583010	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:50583010G>A	ENST00000395860.2	-	1	265	c.261C>T	c.(259-261)acC>acT	p.T87T	METTL21D_ENST00000395859.2_Silent_p.T87T	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN		87							methyltransferase activity	p.T87T(1)		kidney(1)|lung(1)|urinary_tract(1)	3						CTTACCCGAGGGTAGCAGCCA	0.687000													3	8					0	0	0.004672	0	0
PARP4	143	broad.mit.edu	37	13	25029154	25029154	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:25029154C>A	ENST00000381989.3	-	22	2864		c.e22+1			NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGCGCACTCACCTGTGCCGAA	0.532000													26	206					6.07407e-21	1.07248e-20	0.007291	1	0
PRPS1	5631	broad.mit.edu	37	X	106882646	106882646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:106882646G>A	ENST00000372435.4	+	2	366	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PRPS1_ENST00000372419.3_Missense_Mutation_p.A82T|PRPS1_ENST00000372418.1_Missense_Mutation_p.A15T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A82T|PRPS1_ENST00000372428.4_Missense_Mutation_p.A15T	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	82					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.A82T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GATTGCTTCAGCCAGCCGGGT	0.443000													39	315					0	0	0.009718	0	0
LRRC6	23639	broad.mit.edu	37	8	133673706	133673706	+	Splice_Site	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:133673706C>T	ENST00000519595.1	-	2	276	c.178_splice	c.e2+1	p.E60_splice	LRRC6_ENST00000250173.1_Splice_Site_p.E60_splice|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Splice_Site_p.E60_splice			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	60						cytoplasm		p.?(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAAACTTACCAATTTTCCCA	0.323000													9	36					0	0	0.006214	0	0
OR56A3	390083	broad.mit.edu	37	11	5969145	5969145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:5969145G>T	ENST00000329564.6	+	1	576	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R190I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGTTTCCAGACTCTCCTGC	0.473000													17	130					2.48551e-13	3.94583e-13	0.004990	1	0
FCRL3	115352	broad.mit.edu	37	1	157650837	157650837	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:157650837C>G	ENST00000368184.3	-	12	2182	c.1891G>C	c.(1891-1893)Gac>Cac	p.D631H	FCRL3_ENST00000368186.5_Missense_Mutation_p.D631H|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	631						integral to membrane|plasma membrane	receptor activity	p.D631H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTTGAGGGTCTATCCTGGAA	0.537000													5	56					0	0	0.014758	0	0
SPEF2	79925	broad.mit.edu	37	5	35659145	35659145	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:35659145A>T	ENST00000440995.2	+	8	1003	c.1003A>T	c.(1003-1005)Att>Ttt	p.I335F	SPEF2_ENST00000509059.1_Missense_Mutation_p.I335F|SPEF2_ENST00000356031.3_Missense_Mutation_p.I335F|SPEF2_ENST00000282469.6_Missense_Mutation_p.I335F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	335					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.I335F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAACAGCTGATTAACCGGCT	0.478000													4	28					0	0	0.004482	0	0
CT45A5	441521	broad.mit.edu	37	X	134947928	134947928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:134947928C>A	ENST00000370724.3	-	3	641	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Nonsense_Mutation_p.E133*	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	133								p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388000													21	177					5.35356e-11	7.847e-11	0.016522	1	0
AVPR1A	552	broad.mit.edu	37	12	63544585	63544585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:63544585G>T	ENST00000299178.2	-	1	137	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	11					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.P11H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTTGCCCGAGGGCCCCGCGTC	0.731000													25	35					7.92952e-12	1.2052e-11	0.021523	1	0
CDH10	1008	broad.mit.edu	37	5	24491831	24491831	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:24491831C>T	ENST00000264463.4	-	11	2237	c.1730G>A	c.(1729-1731)aGc>aAc	p.S577N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	577	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S577N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCCTGTGCTGCTCTGAATTGG	0.488000										HNSCC(23;0.051)			7	86					0	0	0.003080	0	0
TCF7L1	83439	broad.mit.edu	37	2	85533621	85533621	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:85533621C>T	ENST00000282111.3	+	10	1471	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	399					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A399V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TACGAGCTGGCCCGGAAGGAG	0.612000													13	55					0	0	0.004990	0	0
SELP	6403	broad.mit.edu	37	1	169566244	169566244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:169566244G>T	ENST00000263686.6	-	11	1913	c.1876C>A	c.(1876-1878)Cca>Aca	p.P626T	SELP_ENST00000367794.2_Missense_Mutation_p.P564T|SELP_ENST00000367793.2_Missense_Mutation_p.P564T|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.P564T|SELP_ENST00000367786.2_Missense_Mutation_p.P564T|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	626	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P626T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTTGGTGGAGTAGCTGAC	0.398000													11	71					5.50884e-06	6.6379e-06	0.013537	1	0
SLC6A17	388662	broad.mit.edu	37	1	110738261	110738261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:110738261G>T	ENST00000331565.4	+	10	2031	c.1546G>T	c.(1546-1548)Gga>Tga	p.G516*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	516					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.G516*(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCAGCGCTCCGGAAACTACTT	0.572000													8	78					0.00448238	0.00479615	0.004482	1	0
RABL5	64792	broad.mit.edu	37	7	100958530	100958530	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100958530G>C	ENST00000517481.1	-	6	582	c.212C>G	c.(211-213)tCa>tGa	p.S71*	RABL5_ENST00000498704.2_Nonsense_Mutation_p.S71*|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Nonsense_Mutation_p.S118*|RABL5_ENST00000315322.4_Nonsense_Mutation_p.S148*			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	148							GTP binding	p.S148*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TTCCAGGTTTGAGTGCACCAG	0.443000											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	118					0	0	0.010729	0	0
TEX11	56159	broad.mit.edu	37	X	69849576	69849576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:69849576G>T	ENST00000395889.2	-	19	1693	c.1538C>A	c.(1537-1539)gCa>gAa	p.A513E	TEX11_ENST00000374333.2_Missense_Mutation_p.A498E|TEX11_ENST00000344304.3_Missense_Mutation_p.A513E|TEX11_ENST00000374320.2_Missense_Mutation_p.A188E	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	513							protein binding	p.A498E(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAATTATTGCCTGCAAAGC	0.313000													5	62					0.000602214	0.000667049	0.014758	1	0
FLII	2314	broad.mit.edu	37	17	18150366	18150366	+	Splice_Site	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:18150366C>G	ENST00000327031.4	-	22	2902	c.2676_splice	c.e22-1	p.A893_splice	FLII_ENST00000579294.1_Splice_Site_p.A882_splice|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Splice_Site_p.A838_splice|FLII_ENST00000379450.4_Splice_Site_p.A807_splice	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	893	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	p.A893P(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGCTGCTCCGCCTGCAGGTGA	0.706000													8	55					0	0	0.016723	0	0
PLAC1	10761	broad.mit.edu	37	X	133700520	133700520	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:133700520G>T	ENST00000359237.4	-	3	478	c.193C>A	c.(193-195)Cat>Aat	p.H65N	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	65					placenta development	extracellular region		p.H65N(1)		large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGCTGAACATGGTTTGGGGGG	0.502000													29	205					7.26314e-15	1.18469e-14	0.007291	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821792	5821792	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:5821792C>T	ENST00000381095.3	-	5	1554	c.927G>A	c.(925-927)ctG>ctA	p.L309L	NLGN4X_ENST00000538097.1_Silent_p.L309L|NLGN4X_ENST00000275857.6_Silent_p.L309L|NLGN4X_ENST00000381092.1_Silent_p.L309L|NLGN4X_ENST00000381093.2_Silent_p.L329L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	309					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.L309L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCGTGGTGTCCAGCATGTTGC	0.592000													24	102					0	0	0.027356	0	0
PLCB4	5332	broad.mit.edu	37	20	9416206	9416206	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:9416206G>T	ENST00000378501.2	+	25	2503		c.e25-1		PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.?(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTCCCCTAGATATCGTGGA	0.348000													8	63					0.000274275	0.00030892	0.004482	1	0
COL4A2	1284	broad.mit.edu	37	13	111132690	111132690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:111132690C>A	ENST00000360467.5	+	31	3017	c.2711C>A	c.(2710-2712)cCt>cAt	p.P904H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	904	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P904H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCAGGAAGCCCTGGATTTAAA	0.577000													12	123					3.27435e-08	4.35766e-08	0.020292	1	0
GCH1	2643	broad.mit.edu	37	14	55310797	55310797	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:55310797A>T	ENST00000491895.2	-	6	879	c.691T>A	c.(691-693)Ttg>Atg	p.L231M	GCH1_ENST00000395514.1_Missense_Mutation_p.L231M|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	231					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	p.L231M(1)		endometrium(2)|lung(7)|skin(2)	11						AACACACCCAACATTGTGCTG	0.463000													18	170					0	0	0.006122	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350211	51350211	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:51350211A>T	ENST00000327536.5	-	3	845	c.746T>A	c.(745-747)aTc>aAc	p.I249N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	249								p.I249N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GACGTGGTTGATGCGCCCGTG	0.552000													12	51					0	0	0.013537	0	0
SEPT6	23157	broad.mit.edu	37	X	118771019	118771019	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:118771019C>T	ENST00000394610.1	-	7	1191	c.927G>A	c.(925-927)aaG>aaA	p.K309K	SEPT6_ENST00000489216.1_Silent_p.K309K|SEPT6_ENST00000354228.4_Silent_p.K309K|SEPT6_ENST00000394617.2_Silent_p.K339K|SEPT6_ENST00000360156.7_Silent_p.K309K|SEPT6_ENST00000354416.3_Silent_p.K309K|SEPT6_ENST00000394616.4_Silent_p.K251K|SEPT6_ENST00000343984.5_Silent_p.K309K	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	309					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.K309K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTCGGTGTCCTTGAAGCCCA	0.612000			T	MLL	AML								10	85					0	0	0.013537	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706764	26706764	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:26706764A>T	ENST00000529632.2	+	7	1839	c.1643A>T	c.(1642-1644)cAg>cTg	p.Q548L	SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q548L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q548L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q321L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q321L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	548	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.Q548L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACGTCCGACCAGGCCCGGGCG	0.597000													13	140					0	0	0.004990	0	0
FAT4	79633	broad.mit.edu	37	4	126372425	126372425	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:126372425A>T	ENST00000394329.3	+	9	10267	c.10254A>T	c.(10252-10254)ccA>ccT	p.P3418P	FAT4_ENST00000335110.5_Silent_p.P1716P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3418	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P3418P(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						AAGGGGTCCCAATAGGAACTC	0.453000													37	220					0	0	0.019004	0	0
OR4D11	219986	broad.mit.edu	37	11	59271767	59271767	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:59271767G>T	ENST00000313253.1	+	1	719	c.719G>T	c.(718-720)tGc>tTc	p.C240F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C240F(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCTCCACTTGCACCTCCCAC	0.552000													37	320					1.58521e-26	2.88464e-26	0.023175	1	0
LRBA	987	broad.mit.edu	37	4	151792559	151792559	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:151792559C>A	ENST00000535741.1	-	19	2778	c.2305G>T	c.(2305-2307)Gct>Tct	p.A769S	LRBA_ENST00000507224.1_Missense_Mutation_p.A769S|LRBA_ENST00000510413.1_Missense_Mutation_p.A769S|LRBA_ENST00000357115.3_Missense_Mutation_p.A769S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	769						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.A769S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCCTTTCAGCTAGCAATGAA	0.363000													33	179					1.04352e-10	1.50076e-10	0.017118	1	0
MYOCD	93649	broad.mit.edu	37	17	12666878	12666878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:12666878C>A	ENST00000425538.1	+	14	3078	c.2878C>A	c.(2878-2880)Ccc>Acc	p.P960T	MYOCD_ENST00000343344.4_Missense_Mutation_p.P912T|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	912					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P960T(1)|p.P912T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACCAGCAGCCCCAGCATCTT	0.517000													11	60					1.58986e-06	1.96893e-06	0.008291	1	0
REG3A	5068	broad.mit.edu	37	2	79385822	79385822	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:79385822G>C	ENST00000393878.1	-	2	404	c.150C>G	c.(148-150)caC>caG	p.H50Q	REG3A_ENST00000305165.2_Missense_Mutation_p.H50Q|REG3A_ENST00000409839.3_Missense_Mutation_p.H50Q|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	50	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.H50Q(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGGCATAGCAGTGGGAGCCAT	0.572000													5	61					0	0	0.014758	0	0
OR10K2	391107	broad.mit.edu	37	1	158390597	158390597	+	Silent	SNP	C	C	A	rs138054803		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:158390597C>A	ENST00000314902.2	-	1	59	c.60G>T	c.(58-60)ctG>ctT	p.L20L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L20L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCAGCCTGGCCAGGGATGAGA	0.522000													8	40					3.86212e-05	4.46271e-05	0.008291	1	0
ODF1	4956	broad.mit.edu	37	8	103573108	103573108	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:103573108T>C	ENST00000285402.3	+	2	905	c.749T>C	c.(748-750)tTg>tCg	p.L250S	ODF1_ENST00000518835.1_Missense_Mutation_p.L43S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	250					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.L250S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGATGATTTTGTAAAGTGCG	0.517000													17	228					0	0	0.006122	0	0
PTH	5741	broad.mit.edu	37	11	13514017	13514017	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:13514017C>T	ENST00000282091.1	-	3	397	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	PTH_ENST00000529816.1_Missense_Mutation_p.E95K	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	95					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	p.E95K(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		AGACTTTTTTCATGGCTCTCA	0.438000													11	62					0	0	0.008291	0	0
KRT6B	3854	broad.mit.edu	37	12	52841600	52841600	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:52841600G>A	ENST00000252252.3	-	7	1433	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	462	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.I462I(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGTAGGTGGCGATCTCCACAT	0.612000													13	186					0	0	0.020292	0	0
IL31RA	133396	broad.mit.edu	37	5	55212479	55212479	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:55212479T>A	ENST00000396834.1	+	17	2265	c.1769T>A	c.(1768-1770)cTa>cAa	p.L590Q	IL31RA_ENST00000490985.1_Missense_Mutation_p.L467Q|IL31RA_ENST00000447346.2_Missense_Mutation_p.L609Q|IL31RA_ENST00000359040.5_Missense_Mutation_p.L609Q|IL31RA_ENST00000354961.4_Missense_Mutation_p.L590Q	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	577					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	p.L609Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGGATAAGCTAAACCTGAAG	0.448000													23	136					0	0	0.009535	0	0
HIP1	3092	broad.mit.edu	37	7	75189162	75189162	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:75189162C>T	ENST00000336926.6	-	14	1275	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	HIP1_ENST00000434438.2_Missense_Mutation_p.A417T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	417	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.A417T(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGCTCGGCCAGATCTGCT	0.672000			T	PDGFRB	CMML								3	11					0	0	0.001984	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79063993	79063993	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:79063993G>A	ENST00000388820.4	-	15	2520	c.2310C>T	c.(2308-2310)taC>taT	p.Y770Y	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y770Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCCTGCGTGCGTATGTGAAGG	0.657000													4	37					0	0	0.009096	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790348	65790348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:65790348C>A	ENST00000312106.5	-	2	1538	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	467					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.Q467H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGCGAAGGTCTGGGCCACCA	0.577000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	118					5.9392e-07	7.51175e-07	0.021553	1	0
JPH3	57338	broad.mit.edu	37	16	87678552	87678552	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:87678552C>G	ENST00000284262.2	+	2	1313	c.1071C>G	c.(1069-1071)agC>agG	p.S357R		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	357					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.S357R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCGGGCCAGCAAGATCCGCG	0.662000													3	58					0	0	0.004672	0	0
ATP11A	23250	broad.mit.edu	37	13	113527887	113527887	+	Splice_Site	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:113527887C>G	ENST00000487903.1	+	27	3146	c.3057_splice	c.e27-1	p.L1020_splice	ATP11A_ENST00000375645.3_Splice_Site_p.L1020_splice|ATP11A_ENST00000283558.8_Splice_Site_p.L1020_splice|ATP11A_ENST00000375630.2_Splice_Site_p.L1020_splice			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1020					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1020V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCCTTTTAGCTTGCATTGGA	0.488000											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	98					0	0	0.004990	0	0
GLRA3	8001	broad.mit.edu	37	4	175636673	175636673	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:175636673C>A	ENST00000274093.3	-	5	1042	c.540G>T	c.(538-540)atG>atT	p.M180I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M180I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	180					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.M180I(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTTGTACATCCATGGGAAAAT	0.274000													6	62					5.18039e-06	6.2846e-06	0.003080	1	0
MRC2	9902	broad.mit.edu	37	17	60765739	60765739	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:60765739C>T	ENST00000303375.5	+	21	3438	c.3036C>T	c.(3034-3036)gtC>gtT	p.V1012V	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1012	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding	p.V1012V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGCTGGTCACCATCACAA	0.582000													20	90					0	0	0.010504	0	0
RLIM	51132	broad.mit.edu	37	X	73812218	73812218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:73812218C>A	ENST00000332687.6	-	4	1150	c.932G>T	c.(931-933)gGa>gTa	p.G311V	RLIM_ENST00000349225.2_Missense_Mutation_p.G311V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	311					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G311V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTCCTGATCCTGTAGATTC	0.478000													5	57					3.59834e-05	4.18502e-05	0.021553	1	0
ZNF618	114991	broad.mit.edu	37	9	116811997	116811997	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:116811997C>T	ENST00000288466.7	+	14	2235	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	ZNF618_ENST00000374126.5_Silent_p.A805A|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A722A(1)|p.A805A(1)|p.A712A(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACAAGGTGGCCATGATCCTGG	0.617000													12	47					0	0	0.013537	0	0
PSMD12	5718	broad.mit.edu	37	17	65340804	65340804	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:65340804T>C	ENST00000356126.3	-	9	1108	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	PSMD12_ENST00000357146.4_Missense_Mutation_p.E314G	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	334	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.E334G(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TGCAGGACTCTCAAGGGAACC	0.393000													15	90					0	0	0.028581	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958429	57958429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:57958429C>A	ENST00000311591.3	+	1	524	c.467C>A	c.(466-468)gCc>gAc	p.A156D		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156D(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TTTTTCAGTGCCTTTGTTCGA	0.502000													18	105					5.03518e-11	7.40061e-11	0.007413	1	0
CNTN5	53942	broad.mit.edu	37	11	99932110	99932110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:99932110C>A	ENST00000524871.1	+	10	1437	c.1147C>A	c.(1147-1149)Caa>Aaa	p.Q383K	CNTN5_ENST00000528682.1_Missense_Mutation_p.Q383K|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q383K|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q383K|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q309K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	383	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Q383K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTTCGTGGACAATTACAAGT	0.383000													14	39					9.05144e-12	1.37182e-11	0.016723	1	0
HGF	3082	broad.mit.edu	37	7	81335060	81335060	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:81335060G>T	ENST00000222390.5	-	16	1993	c.1767C>A	c.(1765-1767)gtC>gtA	p.V589V	HGF_ENST00000457544.2_Silent_p.V584V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	589	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	p.V589V(1)		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						AATCATCCAGGACAGCAGGCC	0.363000													8	76					3.09899e-07	3.9664e-07	0.004482	1	0
RYR2	6262	broad.mit.edu	37	1	237794761	237794761	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:237794761C>A	ENST00000366574.2	+	42	6792	c.6475C>A	c.(6475-6477)Cct>Act	p.P2159T	RYR2_ENST00000360064.6_Missense_Mutation_p.P2157T|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2159	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	p.P2157S(1)		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)			TTACCAGCACCCTAATCTCAT	0.453000													12	42					4.36969e-10	6.15206e-10	0.016723	1	0
FLT4	2324	broad.mit.edu	37	5	180048156	180048156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:180048156G>T	ENST00000261937.6	-	14	2195	c.2117C>A	c.(2116-2118)gCg>gAg	p.A706E	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A706E|FLT4_ENST00000502649.1_Missense_Mutation_p.A706E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	706	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A706E(2)|p.A516E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCTGGGCGCGTGCGCTCC	0.667000													8	58					2.17888e-05	2.56762e-05	0.006214	1	0
CILP2	148113	broad.mit.edu	37	19	19655874	19655874	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:19655874C>A	ENST00000586018.1	+	8	2640	c.2538C>A	c.(2536-2538)gaC>gaA	p.D846E	CILP2_ENST00000291495.4_Missense_Mutation_p.D840E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	840						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.D840E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACCTGGACAGGCTGGGGT	0.721000													10	23					0.00010058	0.000114979	0.013537	1	0
SLN	6588	broad.mit.edu	37	11	107578577	107578577	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:107578577C>A	ENST00000531293.1	-	3	432	c.80G>T	c.(79-81)aGg>aTg	p.R27M	SLN_ENST00000305991.2_Missense_Mutation_p.R27M|SLN_ENST00000525934.1_Missense_Mutation_p.R27M			O00631	SARCO_HUMAN	sarcolipin	27					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity	p.R27M(1)		large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		CTGATAGGACCTCACAAGGAG	0.512000													8	79					1.06961e-07	1.39232e-07	0.003080	1	0
C4orf21	55345	broad.mit.edu	37	4	113506721	113506721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:113506721C>A	ENST00000505019.1	-	14	4202	c.4077G>T	c.(4075-4077)atG>atT	p.M1359I		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.M1359I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCTTTTTAACCATGACAAGTT	0.363000													5	30					0.014758	0.0153609	0.014758	1	0
KCNE1L	23630	broad.mit.edu	37	X	108867958	108867958	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:108867958A>T	ENST00000372101.2	-	1	435	c.292T>A	c.(292-294)Tgc>Agc	p.C98S	RP1-136J15.3_ENST00000439581.1_RNA	NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	98					regulation of heart contraction	voltage-gated potassium channel complex		p.C98S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGCTCGGCGCAAGCCTGGGAC	0.721000													3	25					0	0	0.014758	0	0
CPA3	1359	broad.mit.edu	37	3	148586769	148586769	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:148586769G>A	ENST00000296046.3	+	3	264	c.212G>A	c.(211-213)aGt>aAt	p.S71N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	71					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S71N(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTCCGAGTTAGTGAGAAGGAA	0.418000													7	69					0	0	0.001984	0	0
PON3	5446	broad.mit.edu	37	7	95001637	95001637	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:95001637G>A	ENST00000265627.5	-	4	225	c.215C>T	c.(214-216)cCa>cTa	p.P72L	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.P72L	NM_000940.2	NP_000931.1			paraoxonase 3									p.P72L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGCATGCCTGGATATTTTAA	0.348000													11	93					0	0	0.010729	0	0
GOLGA3	2802	broad.mit.edu	37	12	133360732	133360732	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:133360732C>G	ENST00000545875.1	-	16	3505	c.3285G>C	c.(3283-3285)ctG>ctC	p.L1095L	GOLGA3_ENST00000450791.2_Intron|GOLGA3_ENST00000204726.3_Intron|GOLGA3_ENST00000537452.1_Silent_p.L1095L|GOLGA3_ENST00000456883.2_Intron	NM_001172557.1	NP_001166028.1	Q08378	GOGA3_HUMAN	golgin A3	0					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.L1095L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCGCCACAGCAGATGGCCAG	0.627000													6	39					0	0	0.001984	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124226	142124226	+	RNA	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:142124226G>A	ENST00000390376.2	-	0	251																											TTAATCTAGAGACATTGTAGC	0.522000													27	227					0	0	0.009718	0	0
USP6NL	9712	broad.mit.edu	37	10	11531201	11531201	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:11531201C>A	ENST00000379237.1	-	10	958	c.564G>T	c.(562-564)ggG>ggT	p.G188G	USP6NL_ENST00000277575.5_Silent_p.G205G	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	188	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G205G(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCTGGCTCATCCCCTGACAAT	0.483000													30	72					1.06801e-11	1.60954e-11	0.009535	1	0
SETBP1	26040	broad.mit.edu	37	18	42530897	42530897	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:42530897G>T	ENST00000282030.5	+	4	1888	c.1592G>T	c.(1591-1593)aGg>aTg	p.R531M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	531						nucleus	DNA binding	p.R477M(1)|p.R531M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAAAACGAAGGTGGACTTGC	0.517000									Schinzel-Giedion syndrome				44	179					2.52991e-16	4.25629e-16	0.014410	1	0
RGS13	6003	broad.mit.edu	37	1	192613472	192613472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:192613472G>T	ENST00000391995.2	+	4	296	c.8G>T	c.(7-9)aGg>aTg	p.R3M	RGS13_ENST00000543215.1_Missense_Mutation_p.R3M	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	3						plasma membrane	GTPase activator activity|signal transducer activity	p.R3M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AAAATGAGCAGGCGGAATTGT	0.289000													23	147					7.38237e-10	1.03392e-09	0.006320	1	0
C1orf186	440712	broad.mit.edu	37	1	206239421	206239421	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:206239421A>T	ENST00000331555.5	-	6	1115	c.477T>A	c.(475-477)ccT>ccA	p.P159P		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	159						integral to membrane		p.P159P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACAGAGCAGGGTTGACAA	0.403000													29	100					0	0	0.019004	0	0
OR2T2	401992	broad.mit.edu	37	1	248616384	248616384	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:248616384C>T	ENST00000342927.3	+	1	308	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L96L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CATTTCCTTCCTGGGCTGTGC	0.527000													24	341					0	0	0.027356	0	0
PLCD3	113026	broad.mit.edu	37	17	43195505	43195505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:43195505C>A	ENST00000322765.5	-	7	1229	c.1116G>T	c.(1114-1116)agG>agT	p.R372S	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	372	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R372S(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GGGCAAAGGCCCTGTGTGTGG	0.657000													9	54					0.000978159	0.001079	0.010729	1	0
PCDH11X	27328	broad.mit.edu	37	X	91642839	91642839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:91642839G>T	ENST00000373094.1	+	5	4095	c.3250G>T	c.(3250-3252)Ggc>Tgc	p.G1084C	PCDH11X_ENST00000373097.1_Missense_Mutation_p.G1074C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G1047C|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G1074C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G1047C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1084C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1084					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.G1084C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACATCTCATGGCCTGCCCCT	0.552000													12	78					4.36969e-10	6.15206e-10	0.016723	1	0
BAGE2	85319	broad.mit.edu	37	21	11098888	11098888	+	RNA	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:11098888G>T	ENST00000470054.1	-	0	37									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)		ggtcctctaagccgggaacag	0.607000													4	25					0.00909568	0.00954155	0.009096	1	0
PAK7	57144	broad.mit.edu	37	20	9523281	9523281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:9523281C>A	ENST00000378429.3	-	10	2502	c.1956G>T	c.(1954-1956)atG>atT	p.M652I	PAK7_ENST00000378423.1_Missense_Mutation_p.M652I|PAK7_ENST00000353224.5_Missense_Mutation_p.M652I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	652	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.M652I(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGATCCTCCGCATCGCCTGGA	0.512000													23	137					9.95505e-16	1.66436e-15	0.014323	1	0
WSCD1	23302	broad.mit.edu	37	17	5993675	5993675	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:5993675G>C	ENST00000574946.1	+	4	967	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	WSCD1_ENST00000317744.5_Missense_Mutation_p.E193Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.E77Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.E193Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.E193Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	193	WSC 1.					integral to membrane	sulfotransferase activity	p.E193Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCCGGGGCGGAGTGTTACTG	0.647000													4	47					0	0	0.008291	0	0
UNC13C	440279	broad.mit.edu	37	15	54914593	54914593	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:54914593G>A	ENST00000545554.1	+	30	6175	c.6175G>A	c.(6175-6177)Gga>Aga	p.G2059R	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.G2059R|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2057R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2059	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2059R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCAGGAACGGGAGATCATAA	0.443000													17	52					0	0	0.007413	0	0
PFKFB3	5209	broad.mit.edu	37	10	6268204	6268204	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:6268204C>T	ENST00000379775.4	+	14	1721	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	PFKFB3_ENST00000379785.1_Missense_Mutation_p.P464L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P464L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.P464L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P464L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P478L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P444L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	464	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.P464Q(2)|p.P464L(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGTGTCACCCCGCTAGCCAGC	0.577000													10	74					0	0	0.004990	0	0
FOXI1	2299	broad.mit.edu	37	5	169535126	169535126	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:169535126G>C	ENST00000306268.6	+	2	709	c.648G>C	c.(646-648)agG>agC	p.R216S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	216					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.R216S(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGAAAAGGAAGAGAAAAT	0.498000									Pendred syndrome				15	129					0	0	0.028581	0	0
DRD2	1813	broad.mit.edu	37	11	113285167	113285167	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:113285167G>T	ENST00000362072.3	-	6	1084	c.740C>A	c.(739-741)cCc>cAc	p.P247H	DRD2_ENST00000544518.1_Missense_Mutation_p.P246H|DRD2_ENST00000542968.1_Missense_Mutation_p.P247H|DRD2_ENST00000355319.2_Missense_Mutation_p.P247H|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Missense_Mutation_p.P247H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	247	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.P247N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CATGTCCTCGGGGTGAGTACA	0.557000													40	212					3.78316e-11	5.59113e-11	0.025465	1	0
FYCO1	79443	broad.mit.edu	37	3	46006595	46006595	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:46006595C>A	ENST00000296137.2	-	9	3285	c.3080G>T	c.(3079-3081)aGc>aTc	p.S1027I	FYCO1_ENST00000535325.1_Missense_Mutation_p.S1027I	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1027					transport	integral to membrane	metal ion binding|protein binding	p.S1027I(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCCCCTGAGGCTCTTGCACTC	0.562000													5	56					0.00116845	0.00127315	0.021553	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072787	34072787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:34072787C>A	ENST00000254466.6	-	6	1756	c.1729G>T	c.(1729-1731)Gac>Tac	p.D577Y	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D561Y	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	577					cell cycle arrest	cytoplasm|cytoskeleton		p.D577Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCCCAGGTCCCAGGACTCT	0.617000													29	87					5.61819e-17	9.4818e-17	0.027356	1	0
CCDC108	255101	broad.mit.edu	37	2	219896345	219896345	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:219896345C>T	ENST00000341552.5	-	7	764	c.681G>A	c.(679-681)gcG>gcA	p.A227A	CCDC108_ENST00000410037.1_Silent_p.A162A|CCDC108_ENST00000441968.1_Silent_p.A227A|CCDC108_ENST00000409865.3_Silent_p.A216A|CCDC108_ENST00000453220.1_Silent_p.A227A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	227						integral to membrane	structural molecule activity	p.A227A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCCCCTCCGCTTTCTCAA	0.627000													36	159					0	0	0.019004	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763908	110763908	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:110763908C>A	ENST00000368919.3	-	4	788	c.722G>T	c.(721-723)tGg>tTg	p.W241L	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.W241L|SLC22A16_ENST00000330550.4_Missense_Mutation_p.W207L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	241					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.W241L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GACAGACGCCCATGTCCGAGA	0.453000													20	79					4.35082e-09	5.98377e-09	0.010504	1	0
NOVA1	4857	broad.mit.edu	37	14	26917950	26917950	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:26917950T>A	ENST00000539517.2	-	5	1056	c.739A>T	c.(739-741)Agt>Tgt	p.S247C	NOVA1_ENST00000267422.7_Missense_Mutation_p.S125C|NOVA1_ENST00000465357.2_Missense_Mutation_p.S223C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	250					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.S247C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGCCACTTTGTGGATCC	0.448000													29	119					0	0	0.007835	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864687	160864687	+	Missense_Mutation	SNP	G	G	T	rs9365165		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:160864687G>T	ENST00000392145.1	+	9	1453	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C	SLC22A3_ENST00000275300.2_Missense_Mutation_p.G475C			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	475						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.G475C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GCTCTGTTCAGGTCTGTGTGA	0.388000													8	88					2.74318e-10	3.93459e-10	0.006214	1	0
CFH	3075	broad.mit.edu	37	1	196621179	196621179	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:196621179C>A	ENST00000367429.4	+	0	172				CFH_ENST00000439155.2_De_novo_Start_OutOfFrame	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCACAATTCTTGGAAGAGG	0.368000													3	29					0.004672	0.00497912	0.004672	1	0
CYYR1	116159	broad.mit.edu	37	21	27945240	27945240	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:27945240G>T	ENST00000299340.4	-	1	363	c.20C>A	c.(19-21)cCc>cAc	p.P7H	CYYR1_ENST00000400043.3_Missense_Mutation_p.P7H|CYYR1_ENST00000435845.2_Missense_Mutation_p.P115H	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	7						integral to membrane		p.P7H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TGGACGCACGGGTAGCCTCGG	0.662000													11	72					3.07112e-06	3.75125e-06	0.010729	1	0
NRK	203447	broad.mit.edu	37	X	105150543	105150543	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:105150543A>G	ENST00000428173.2	+	11	1285	c.982A>G	c.(982-984)Agg>Ggg	p.R328G	NRK_ENST00000243300.9_Missense_Mutation_p.R328G			Q7Z2Y5	NRK_HUMAN	Nik related kinase	328							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R328G(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTCATTAACAAGGCATCTTAC	0.303000										HNSCC(51;0.14)			2	6					0	0	0.004672	0	0
CCDC54	84692	broad.mit.edu	37	3	107096514	107096514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:107096514C>A	ENST00000261058.1	+	1	327	c.80C>A	c.(79-81)tCt>tAt	p.S27Y		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	27								p.S27Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTCAGACAGTCTCTTAAAAAT	0.398000													45	157					5.34276e-22	9.46481e-22	0.014410	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121216	38121216	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:38121216C>T	ENST00000406386.3	+	7	2908	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	885					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.R885C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCTCCCCACCGCTCCACTCA	0.532000													15	330					0	0	0.024245	0	0
CSMD1	64478	broad.mit.edu	37	8	2855596	2855596	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:2855596C>T	ENST00000602557.1	-	55	8872	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2715S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2714S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2773S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2772S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2715S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2773	Sushi 19.					integral to membrane		p.G2501S(1)|p.G2772S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGACACGCCCTGCAGCAAA	0.562000													20	79					0	0	0.012319	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765635	77765635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:77765635C>A	ENST00000521891.2	+	10	6926	c.6478C>A	c.(6478-6480)Cag>Aag	p.Q2160K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2134K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2115K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2115K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q2144K(1)		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)			AGAACAGATCCAGGAAATGGC	0.378000										HNSCC(33;0.089)			9	118					0.000442599	0.000493314	0.006214	1	0
TMEM181	57583	broad.mit.edu	37	6	159028287	159028287	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:159028287G>C	ENST00000367090.3	+	8	1007	c.996G>C	c.(994-996)gcG>gcC	p.A332A		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	332					pathogenesis	integral to membrane	toxin binding	p.A332A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GCCTGTTTGCGCATTCCCTCC	0.532000													14	87					0	0	0.024245	0	0
IL36B	27177	broad.mit.edu	37	2	113785526	113785526	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:113785526C>A	ENST00000327407.2	-	5	535	c.428G>T	c.(427-429)aGa>aTa	p.R143I	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	89					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.R143I(1)		kidney(1)|ovary(1)|pancreas(1)	3						AGTTATGCCTCTCTCCTTGGT	0.473000													23	95					1.36565e-18	2.33425e-18	0.016522	1	0
C1QB	713	broad.mit.edu	37	1	22986035	22986035	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:22986035T>G	ENST00000509305.1	+	2	426	c.80T>G	c.(79-81)cTc>cGc	p.L27R	C1QB_ENST00000314933.6_Missense_Mutation_p.L29R			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	29					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.L29R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGCCCAGCTCAGCTGCACC	0.607000													9	77					0	0	0.004482	0	0
EPT1	85465	broad.mit.edu	37	2	26587740	26587740	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:26587740C>T	ENST00000260585.7	+	3	286	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	56					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	p.S56F(1)									ATAACTTTTTCTGGCTTTCTG	0.318000													14	61					0	0	0.008871	0	0
PCDH10	57575	broad.mit.edu	37	4	134071779	134071779	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:134071779A>T	ENST00000264360.4	+	1	1310	c.484A>T	c.(484-486)Acc>Tcc	p.T162S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	162	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T162S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTACGAGATCACCCCCAACAG	0.622000													18	115					0	0	0.007413	0	0
C4orf36	132989	broad.mit.edu	37	4	87808958	87808958	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:87808958C>G	ENST00000473559.1	-	7	972	c.309G>C	c.(307-309)ctG>ctC	p.L103L	C4orf36_ENST00000295898.3_Silent_p.L103L			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	103								p.L103L(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		GCCTTTCCCTCAGGAGAAGCT	0.413000													13	63					0	0	0.016723	0	0
ABCB1	5243	broad.mit.edu	37	7	87144598	87144598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:87144598G>T	ENST00000265724.3	-	26	3648	c.3231C>A	c.(3229-3231)agC>agA	p.S1077R	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S1013R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1077	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.S1077R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGACCACTGTGCTCTTCCCAC	0.572000													5	44					1.23904e-05	1.47636e-05	0.014758	1	0
CDH8	1006	broad.mit.edu	37	16	61851398	61851398	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:61851398G>A	ENST00000577390.1	-	7	2216	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I	CDH8_ENST00000299345.6_Missense_Mutation_p.T421I|CDH8_ENST00000584337.1_Missense_Mutation_p.T421I|CDH8_ENST00000577730.1_Missense_Mutation_p.T421I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	421	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T421I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGACTGGAAGTGATATCAGG	0.433000													7	43					0	0	0.003080	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271365	36271365	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:36271365G>C	ENST00000007510.4	+	8	811	c.667G>C	c.(667-669)Gat>Cat	p.D223H	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.D87H|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.D223H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	223	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.D223H(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ACCCACAGAGGATCGGAGCTG	0.667000													4	37					0	0	0.014758	0	0
GKN1	56287	broad.mit.edu	37	2	69206066	69206066	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:69206066G>T	ENST00000377938.2	+	4	373	c.310G>T	c.(310-312)Gtc>Ttc	p.V104F		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	104	BRICHOS.				digestion|positive regulation of cell division	extracellular region		p.V104F(1)		breast(2)|large_intestine(4)|lung(5)	11						GAACAAGGAAGTCATGCCCTC	0.408000													13	68					3.45872e-05	4.0402e-05	0.028581	1	0
MIOS	54468	broad.mit.edu	37	7	7613232	7613232	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:7613232G>C	ENST00000340080.4	+	4	1547	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	MIOS_ENST00000405785.1_Missense_Mutation_p.E376Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	376								p.E376Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATTTATATGAATGTACGGA	0.393000													22	130					0	0	0.012319	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055839	40055839	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:40055839G>T	ENST00000336649.4	+	17	2604	c.2604G>T	c.(2602-2604)gtG>gtT	p.V868V	CACNA1I_ENST00000400164.3_Silent_p.V827V|CACNA1I_ENST00000407673.1_Silent_p.V827V|CACNA1I_ENST00000404898.1_Silent_p.V827V|CACNA1I_ENST00000401624.1_Silent_p.V862V|CACNA1I_ENST00000402142.3_Silent_p.V862V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	862					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.V862V(1)|p.V827V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCATCCTGGTGGAGGGCTTCC	0.622000													13	97					7.03913e-09	9.60697e-09	0.013537	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47251938	47251938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:47251938G>C	ENST00000296861.2	-	3	1372	c.979C>G	c.(979-981)Ccc>Gcc	p.P327A		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	327					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.P327A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCCTTGATGGGCGTGCTGGAC	0.552000													30	243					0	0	0.009535	0	0
SCN4A	6329	broad.mit.edu	37	17	62049513	62049513	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:62049513G>C	ENST00000578147.1	-	3	541	c.465C>G	c.(463-465)ccC>ccG	p.P155P	SCN4A_ENST00000435607.1_Silent_p.P155P			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	155					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P155P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTTGGACCAGGGAGGCGGGT	0.552000													4	24					0	0	0.021553	0	0
LTF	4057	broad.mit.edu	37	3	46485038	46485038	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:46485038C>A	ENST00000231751.4	-	13	1844	c.1549G>T	c.(1549-1551)Gac>Tac	p.D517Y	LTF_ENST00000426532.2_Missense_Mutation_p.D473Y|LTF_ENST00000417439.1_Missense_Mutation_p.D515Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	517	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.D517Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GATCTCGGGTCAGACCCAGGG	0.517000													16	169					4.7546e-09	6.50566e-09	0.028581	1	0
XCL1	6375	broad.mit.edu	37	1	168550395	168550395	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:168550395G>T	ENST00000367818.3	+	3	447	c.282G>T	c.(280-282)atG>atT	p.M94I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	94					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.M94I(1)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAAATAACATGATCCAGACCA	0.527000													10	48					4.68919e-08	6.1791e-08	0.008291	1	0
SLC18A2	6571	broad.mit.edu	37	10	119015006	119015006	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:119015006G>T	ENST00000298472.5	+	8	950	c.807G>T	c.(805-807)gtG>gtT	p.V269V	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	269					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.V269V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGCTCTTTGTGCTCCAGCCGT	0.542000													15	59					1.15088e-07	1.48009e-07	0.028581	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102551666	102551666	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:102551666G>A	ENST00000334701.7	-	5	1279	c.998C>T	c.(997-999)tCt>tTt	p.S333F	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.S32F|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S211F	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	211					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	p.S333F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	AATAAACTGAGAATGTTTCTT	0.378000													9	47					0	0	0.006214	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					10	107					0	0	0.028581	0	0
OR2T11	127077	broad.mit.edu	37	1	248790155	248790155	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:248790155A>C	ENST00000330803.2	-	1	336	c.275T>G	c.(274-276)gTg>gGg	p.V92G		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V92G(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCACAGGCCACAAAGGAAAT	0.498000													12	61					0	0	0.013537	0	0
MUC17	140453	broad.mit.edu	37	7	100680394	100680394	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100680394C>A	ENST00000306151.4	+	3	5761	c.5697C>A	c.(5695-5697)acC>acA	p.T1899T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1899	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1900P(1)		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)					CACCTGTGACCACTTATGCTC	0.498000													60	446					1.12357e-39	2.1316e-39	0.014410	1	0
OBSCN	84033	broad.mit.edu	37	1	228548137	228548137	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:228548137T>C	ENST00000284548.11	+	81	19618	c.19544T>C	c.(19543-19545)cTc>cCc	p.L6515P	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3634P|OBSCN_ENST00000422127.1_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.L6515P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGCTGCTCAGCGTGGGG	0.701000													4	28					0	0	0.004482	0	0
FAM135B	51059	broad.mit.edu	37	8	139268931	139268931	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:139268931C>A	ENST00000395297.1	-	5	539		c.e5+1			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B									p.?(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGACACTCACTGCTGTTCAC	0.463000										HNSCC(54;0.14)			10	58					4.68919e-08	6.1791e-08	0.008291	1	0
PEAR1	375033	broad.mit.edu	37	1	156877441	156877441	+	Silent	SNP	C	C	T	rs148520058	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:156877441C>T	ENST00000338302.3	+	8	909	c.684C>T	c.(682-684)ttC>ttT	p.F228F	PEAR1_ENST00000292357.7_Silent_p.F228F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	228	EGF-like 2.					integral to membrane		p.F228F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTTCTTCTGCCCCAGCA	0.582000													85	321					0	0	0.014410	0	0
NLRP10	338322	broad.mit.edu	37	11	7981815	7981815	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:7981815A>G	ENST00000328600.2	-	2	1505	c.1344T>C	c.(1342-1344)agT>agC	p.S448S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	448	NACHT.						ATP binding	p.S448S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCGTTACTACTCAGGAAAG	0.483000													27	165					0	0	0.006320	0	0
METTL17	64745	broad.mit.edu	37	14	21458201	21458201	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:21458201T>C	ENST00000339374.6	+	1	273	c.40T>C	c.(40-42)Tgg>Cgg	p.W14R	METTL17_ENST00000556670.2_Missense_Mutation_p.W14R|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Missense_Mutation_p.W14R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	14					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	p.W14R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ATTAGGAAGATGGTGCCCCGG	0.622000													11	66					0	0	0.024334	0	0
PCDH8	5100	broad.mit.edu	37	13	53422541	53422541	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:53422541A>T	ENST00000377942.3	-	1	234	c.31T>A	c.(31-33)Tgc>Agc	p.C11S	PCDH8_ENST00000338862.4_Missense_Mutation_p.C11S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	11					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.C11S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGAAAAGGCAGGGGCTGCCC	0.602000													10	84					0	0	0.010729	0	0
FAM211A	388341	broad.mit.edu	37	17	16347377	16347377	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:16347377G>A	ENST00000470794.1	-	4	587	c.560C>T	c.(559-561)tCc>tTc	p.S187F	C17orf76-AS1_ENST00000581718.1_RNA|FAM211A_ENST00000409083.3_Silent_p.L148L|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA	NM_001113567.2	NP_001107039.1	Q8NAA5	CQ076_HUMAN	family with sequence similarity 211, member A	187								p.S187F(2)|p.L101L(1)		lung(1)	1						CAGGTCTCGGGAGGTCAGTGG	0.622000													4	24					0	0	0.009096	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262397	61262397	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:61262397C>T	ENST00000344731.5	+	7	852	c.750C>T	c.(748-750)aaC>aaT	p.N250N	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	250					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTGCCCAACGACATCGATG	0.458000													10	226					0	0	0.020292	0	0
FUT9	10690	broad.mit.edu	37	6	96651063	96651063	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:96651063C>A	ENST00000302103.5	+	3	358	c.32C>A	c.(31-33)cCa>cAa	p.P11Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	11					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.P11Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATTCTTCGCCCATTTTTAATT	0.403000													9	151					1.12685e-05	1.35172e-05	0.004482	1	0
NPM1	4869	broad.mit.edu	37	5	170819801	170819801	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:170819801G>A	ENST00000296930.5	+	5	741	c.440G>A	c.(439-441)gGt>gAt	p.G147D	NPM1_ENST00000351986.6_Missense_Mutation_p.G147D|NPM1_ENST00000517671.1_Missense_Mutation_p.G147D|NPM1_ENST00000393820.2_Missense_Mutation_p.G147D	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	147	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	p.G147D(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCCTGGAGGTGGTAGCAAG	0.408000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								18	264					0	0	0.018920	0	0
HTR2C	3358	broad.mit.edu	37	X	114141546	114141546	+	Silent	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:114141546T>A	ENST00000276198.1	+	6	1673	c.945T>A	c.(943-945)atT>atA	p.I315I	HTR2C_ENST00000371951.1_Silent_p.I315I|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	315					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.I315I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TCCTTGGGATTGTTTTCTTTG	0.433000													10	298					0	0	0.006214	0	0
SIX3	6496	broad.mit.edu	37	2	45169954	45169954	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:45169954C>T	ENST00000260653.3	+	1	1053	c.711C>T	c.(709-711)cgC>cgT	p.R237R		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	237					visual perception	nucleus		p.R237R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAAGAAACGCGAACTGGCGC	0.642000													6	61					0	0	0.001984	0	0
STARD8	9754	broad.mit.edu	37	X	67941413	67941413	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:67941413G>T	ENST00000252336.6	+	9	2416	c.2044G>T	c.(2044-2046)Gcc>Tcc	p.A682S	STARD8_ENST00000374597.3_Missense_Mutation_p.A682S|STARD8_ENST00000374599.3_Missense_Mutation_p.A762S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	682	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A682S(2)|p.A762S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGCAGCACAAGCCGCCACCTT	0.562000													19	88					3.51602e-12	5.45237e-12	0.008871	1	0
PKP2	5318	broad.mit.edu	37	12	33031935	33031935	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:33031935C>A	ENST00000340811.4	-	2	363	c.255G>T	c.(253-255)gaG>gaT	p.E85D	PKP2_ENST00000070846.6_Missense_Mutation_p.E85D	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	85					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.E85D(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTAGACATACTCAGGAACAC	0.363000													17	130					7.45023e-12	1.13882e-11	0.010504	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618316	77618316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:77618316G>T	ENST00000521891.2	+	2	2441	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E665*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	665						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E665*(1)		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)			CCATATGAAGGAGAAACACCC	0.498000										HNSCC(33;0.089)			10	66					0.00829132	0.00874922	0.008291	1	0
KCNG1	3755	broad.mit.edu	37	20	49626462	49626462	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:49626462C>A	ENST00000371571.4	-	2	699	c.414G>T	c.(412-414)ctG>ctT	p.L138L	KCNG1_ENST00000396017.3_Silent_p.L138L|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	138						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L138L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCGCGCAGCAGCCGCAGCT	0.657000													9	53					1.08611e-07	1.40355e-07	0.010729	1	0
CYP27A1	1593	broad.mit.edu	37	2	219679287	219679287	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:219679287A>T	ENST00000258415.4	+	8	1710	c.1283A>T	c.(1282-1284)cAc>cTc	p.H428L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	428					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.H428L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GTGTTCTGCCACTATGTGGTG	0.592000													29	140					0	0	0.006320	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714949	138714949	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:138714949G>A	ENST00000353963.3	-	9	1070	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	SLC23A1_ENST00000348729.3_Silent_p.Y340Y	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	340					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.Y344Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGGCACAGGCGTAGTAATCTC	0.617000													26	115					0	0	0.006320	0	0
FAT1	2195	broad.mit.edu	37	4	187538323	187538323	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:187538323T>C	ENST00000441802.2	-	11	9120	c.8911A>G	c.(8911-8913)Act>Gct	p.T2971A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2971	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.T2974A(1)|p.T2971A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTGTATAGTTTCAACGGCA	0.358000										HNSCC(5;0.00058)			16	65					0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92533884	92533884	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:92533884A>T	ENST00000298047.6	+	9	7722	c.7705A>T	c.(7705-7707)Agt>Tgt	p.S2569C	FAT3_ENST00000409404.2_Missense_Mutation_p.S2569C|FAT3_ENST00000525166.1_Missense_Mutation_p.S2419C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2569	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S2569C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGGATGTTAGTATTTTTGT	0.473000										TCGA Ovarian(4;0.039)			10	50					0	0	0.008291	0	0
USP24	23358	broad.mit.edu	37	1	55566576	55566576	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:55566576T>A	ENST00000294383.6	-	44	5206	c.5207A>T	c.(5206-5208)cAg>cTg	p.Q1736L	USP24_ENST00000407756.1_Missense_Mutation_p.Q1576L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1736					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q1736L(1)|p.Q1653L(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAGAGAGACTGCACTTGGTA	0.363000													8	64					0	0	0.004482	0	0
CBLN2	147381	broad.mit.edu	37	18	70205992	70205992	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:70205992C>A	ENST00000269503.4	-	4	1146	c.373G>T	c.(373-375)Ggc>Tgc	p.G125C	CBLN2_ENST00000585159.1_Missense_Mutation_p.G125C|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11C|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9C	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	125	C1q.					integral to membrane		p.G125F(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AAGTGGTTGCCAATATTTACT	0.418000													14	99					7.93312e-07	9.96296e-07	0.020292	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130220349	130220349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:130220349C>T	ENST00000276211.5	+	10	1673	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S307F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S431F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S443F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTGTGGAAGTCCAGCCCGGAA	0.463000													11	106					0	0	0.010729	0	0
SI	6476	broad.mit.edu	37	3	164710138	164710138	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:164710138C>A	ENST00000264382.3	-	42	4951	c.4889G>T	c.(4888-4890)tGg>tTg	p.W1630L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1630	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W1630L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTGGACCCCATAAGAACTG	0.323000										HNSCC(35;0.089)			4	28					0.000602214	0.000667049	0.014758	1	0
SVEP1	79987	broad.mit.edu	37	9	113148345	113148345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:113148345C>A	ENST00000401783.2	-	43	10406	c.10070G>T	c.(10069-10071)tGc>tTc	p.C3357F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C3334F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1283F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3357	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C3360F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGAACAGGGCATGGATTTGC	0.388000													22	84					1.10923e-09	1.5414e-09	0.016522	1	0
BIN2	51411	broad.mit.edu	37	12	51685619	51685619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:51685619G>T	ENST00000267012.4	-	10	1332	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	BIN2_ENST00000452142.2_Missense_Mutation_p.A392E|BIN2_ENST00000604560.1_Missense_Mutation_p.A397E|BIN2_ENST00000544402.1_Missense_Mutation_p.A398E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	424	Pro-rich.					cytoplasm	protein binding	p.A424E(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTGGGGCTTGCAGTGGCTCT	0.617000													5	111					0.0215528	0.0223464	0.021553	1	0
SF3B2	10992	broad.mit.edu	37	11	65829421	65829421	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:65829421A>T	ENST00000528302.1	+	15	1932	c.1878A>T	c.(1876-1878)ccA>ccT	p.P626P	SF3B2_ENST00000322535.6_Silent_p.P643P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	643					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.P643P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GACCACCCCCATCGTATCCCA	0.517000													4	38					0	0	0.009096	0	0
IGSF1	3547	broad.mit.edu	37	X	130407900	130407900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:130407900G>T	ENST00000370904.1	-	26	4764	c.3854C>A	c.(3853-3855)tCa>tAa	p.S1285*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S1285*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.S1294*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S1299*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1294					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.S1294*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCTGTCTCTGAGCCTCTATG	0.478000													41	388					1.62957e-23	2.93542e-23	0.008740	1	0
CAT	847	broad.mit.edu	37	11	34478335	34478335	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:34478335A>G	ENST00000241052.4	+	8	1116	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	343					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.I343V(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GCCACCTGGCATTGAGGCCAG	0.478000													12	75					0	0	0.010729	0	0
CLSTN1	22883	broad.mit.edu	37	1	9801204	9801204	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:9801204C>A	ENST00000377298.4	-	10	2259	c.1467G>T	c.(1465-1467)ccG>ccT	p.P489P	CLSTN1_ENST00000377288.3_Silent_p.P489P|CLSTN1_ENST00000361311.4_Silent_p.P479P	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	489					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.P489P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGATGGAGCGGGTAATCCT	0.537000													26	124					3.1745e-13	5.02472e-13	0.008361	1	0
DACT1	51339	broad.mit.edu	37	14	59112403	59112403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:59112403G>T	ENST00000395153.3	+	4	1098	c.951G>T	c.(949-951)agG>agT	p.R317S	DACT1_ENST00000541264.2_Missense_Mutation_p.R73S|DACT1_ENST00000395151.3_Missense_Mutation_p.R73S|DACT1_ENST00000335867.4_Missense_Mutation_p.R354S|DACT1_ENST00000556859.1_Missense_Mutation_p.R73S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	354					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R354S(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCCTGTAAGGACCAACAAAC	0.552000													14	67					0.00244969	0.00264765	0.020292	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869629	36869629	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:36869629A>C	ENST00000279024.4	-	3	1175	c.904T>G	c.(904-906)Tct>Gct	p.S302A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	302								p.S302A(1)		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)				AGTGCCCCAGAAGTACACCCA	0.522000													20	337					0	0	0.008871	0	0
SYTL4	94121	broad.mit.edu	37	X	99943410	99943410	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:99943410G>T	ENST00000372981.1	-	10	1129	c.943C>A	c.(943-945)Cac>Aac	p.H315N	SYTL4_ENST00000455616.1_Missense_Mutation_p.H315N|SYTL4_ENST00000454200.2_Missense_Mutation_p.H317N|SYTL4_ENST00000263033.5_Missense_Mutation_p.H315N|SYTL4_ENST00000372989.1_Missense_Mutation_p.H315N|SYTL4_ENST00000276141.6_Missense_Mutation_p.H315N			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	315					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.H315N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCACTAGGTGGTCAATGtct	0.388000													11	87					3.07112e-06	3.75125e-06	0.010729	1	0
FAM27L	284123	broad.mit.edu	37	17	21826233	21826233	+	RNA	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:21826233G>A	ENST00000426869.3	+	0	416					NR_028336.1				family with sequence similarity 27-like									p.R71Q(1)|p.R71L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		GCCACACCACGATACAGTCTT	0.542000													10	55					0	0	0.010729	0	0
IFIH1	64135	broad.mit.edu	37	2	163133444	163133444	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:163133444A>G	ENST00000263642.2	-	11	2452	c.2057T>C	c.(2056-2058)aTg>aCg	p.M686T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	686					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.M686T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTTTTCAACATTTTATTGTT	0.318000													17	98					0	0	0.004990	0	0
FLG2	388698	broad.mit.edu	37	1	152331316	152331316	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:152331316G>C	ENST00000388718.5	-	2	117	c.45C>G	c.(43-45)ttC>ttG	p.F15L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	15	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity	p.F15L(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATTTGTAGAAAACATCAA	0.423000													20	147					0	0	0.008871	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249881	68249881	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:68249881T>A	ENST00000347230.4	-	21	4126	c.3988A>T	c.(3988-3990)Agc>Tgc	p.S1330C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1330C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1330					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.S1330C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGGTTTGCTGACCTTTAAC	0.597000													18	192					0	0	0.012319	0	0
KCTD8	386617	broad.mit.edu	37	4	44177010	44177010	+	Missense_Mutation	SNP	G	G	A	rs143160739		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:44177010G>A	ENST00000360029.3	-	2	1502	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	407						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R407S(1)|p.R407C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGTTTCTGCGTTTGTCTGGT	0.463000										HNSCC(17;0.042)			46	276					0	0	0.014410	0	0
ZNF626	199777	broad.mit.edu	37	19	20808148	20808148	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:20808148C>A	ENST00000601440.1	-	4	681	c.535G>T	c.(535-537)Ggc>Tgc	p.G179C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G179C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGCTTTGCCACATTCTATA	0.348000													11	70					1.58986e-06	1.96893e-06	0.008291	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157899	26157899	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:26157899G>C	ENST00000325250.1	+	2	984	c.797G>C	c.(796-798)cGc>cCc	p.R266P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	266	MAGE.						protein binding	p.R266P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GATCCTCCACGCTATGAATTC	0.498000													6	34					0	0	0.001984	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463491	130463491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:130463491C>A	ENST00000356763.3	-	2	1129	c.572G>T	c.(571-573)cGg>cTg	p.R191L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	191	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.R191L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGTTCTCCTCCGTGATGTGTC	0.413000													11	86					3.07112e-06	3.75125e-06	0.010729	1	0
EPN1	29924	broad.mit.edu	37	19	56203235	56203235	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:56203235C>G	ENST00000411543.2	+	7	1683	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W	EPN1_ENST00000270460.6_Missense_Mutation_p.S293W|EPN1_ENST00000085079.7_Missense_Mutation_p.S268W	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	293	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	p.S379W(1)|p.S293W(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GCCCCCACCTCGGACCCCTGG	0.751000													4	59					0	0	0.021553	0	0
PRR23B	389151	broad.mit.edu	37	3	138738865	138738865	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:138738865G>T	ENST00000329447.5	-	1	903	c.639C>A	c.(637-639)ccC>ccA	p.P213P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	213	Pro-rich.							p.P213P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCAAAGATGGGGCGTGGAG	0.627000													4	84					0.00024832	0.000280869	0.009096	1	0
AMER2	219287	broad.mit.edu	37	13	25744119	25744119	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:25744119G>T	ENST00000357816.2	-	3	1757	c.1282C>A	c.(1282-1284)Cgg>Agg	p.R428R	AMER2_ENST00000381853.3_Silent_p.R428R|AMER2_ENST00000515384.1_Silent_p.R547R					APC membrane recruitment protein 2									p.R428R(1)|p.R547R(1)									TAGCTATCCCGGGGGATGCCC	0.642000													14	94					4.36969e-10	6.15206e-10	0.016723	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16872832	16872832	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:16872832C>A	ENST00000355661.3	-	8	612	c.602G>T	c.(601-603)cGa>cTa	p.R201L	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R201L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R201L|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	201	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.R201L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGCTTCTTCTCGGCTGTCTTT	0.522000													18	94					9.16793e-09	1.24805e-08	0.004990	1	0
PRRC2A	7916	broad.mit.edu	37	6	31597577	31597577	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:31597577G>T	ENST00000376033.2	+	14	2443	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G737C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	737	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.G737C(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTCCTCCAGGGTCGTCCCCC	0.592000													16	99					4.7546e-09	6.50566e-09	0.028581	1	0
ASTN1	460	broad.mit.edu	37	1	177001817	177001817	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:177001817G>T	ENST00000367654.2	-	3	653	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.R214R|ASTN1_ENST00000361833.2_Silent_p.R214R|ASTN1_ENST00000367657.3_Silent_p.R214R			O14525	ASTN1_HUMAN	astrotactin 1	214					cell migration|neuron cell-cell adhesion	integral to membrane		p.R214R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGCTCTCCCGTCCGTGCCCG	0.622000													5	38					0.000157383	0.00017839	0.003080	1	0
DUSP22	56940	broad.mit.edu	37	6	348228	348228	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:348228G>A	ENST00000604971.1	+	3	1193	c.80G>A	c.(79-81)gGc>gAc	p.G27D	DUSP22_ENST00000605035.1_Missense_Mutation_p.G27D|DUSP22_ENST00000344450.5_Missense_Mutation_p.G130D|DUSP22_ENST00000605863.1_Missense_Mutation_p.G27D|DUSP22_ENST00000605315.1_Missense_Mutation_p.G27D|DUSP22_ENST00000603453.1_Missense_Mutation_p.G27D|DUSP22_ENST00000419235.2_Missense_Mutation_p.G130D			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	130					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G130D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCCAACGTGGGCTTCCAGAGA	0.572000													12	240					0	0	0.020292	0	0
FCRL2	79368	broad.mit.edu	37	1	157739662	157739662	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:157739662C>A	ENST00000361516.3	-	4	637	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V197L	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	197					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.V197L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTGCTCTGCACGTGAATCTGG	0.473000													12	137					4.14922e-12	6.4157e-12	0.028581	1	0
POLR1B	84172	broad.mit.edu	37	2	113299993	113299993	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:113299993G>T	ENST00000541869.1	+	2	152	c.36G>T	c.(34-36)cgG>cgT	p.R12R	POLR1B_ENST00000409894.3_5'UTR|POLR1B_ENST00000263331.5_5'UTR			Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CGGGACTGCGGCCACTACTTC	0.642000													11	52					3.86212e-05	4.46271e-05	0.008291	1	0
AFF2	2334	broad.mit.edu	37	X	148037249	148037249	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:148037249G>C	ENST00000370460.2	+	11	2153	c.1674G>C	c.(1672-1674)ctG>ctC	p.L558L	AFF2_ENST00000342251.3_Silent_p.L525L|AFF2_ENST00000286437.5_Silent_p.L199L|AFF2_ENST00000370457.5_Silent_p.L525L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	558					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.L558L(4)|p.L199L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTCTGCCTCCTCCAA	0.458000													103	520					0	0	0.014410	0	0
GRM4	2914	broad.mit.edu	37	6	33995926	33995926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:33995926G>T	ENST00000374181.3	-	9	2829	c.2660C>A	c.(2659-2661)tCt>tAt	p.S887Y	GRM4_ENST00000538487.1_Missense_Mutation_p.S887Y|GRM4_ENST00000544773.1_Missense_Mutation_p.S718Y|GRM4_ENST00000455714.2_Missense_Mutation_p.S747Y|GRM4_ENST00000545715.1_Missense_Mutation_p.S579Y|GRM4_ENST00000374177.3_Missense_Mutation_p.S771Y|GRM4_ENST00000535756.1_Missense_Mutation_p.S754Y	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	887					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S887Y(2)|p.S771Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCAGAGCTCAGACTTGGCCTC	0.652000													11	56					1.08611e-07	1.40355e-07	0.010729	1	0
CLCNKA	1187	broad.mit.edu	37	1	16355272	16355272	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:16355272G>A	ENST00000375692.1	+	12	1113	c.985G>A	c.(985-987)Gct>Act	p.A329T	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A329T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A329T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A286T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	329					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.A329T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGTGTACTCCGCTCTGGCCAC	0.642000													8	206					0	0	0.004482	0	0
DDX60	55601	broad.mit.edu	37	4	169201524	169201524	+	Missense_Mutation	SNP	C	C	A	rs137933604		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:169201524C>A	ENST00000393743.3	-	14	2231	c.1940G>T	c.(1939-1941)tGc>tTc	p.C647F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	647							ATP binding|ATP-dependent helicase activity|RNA binding	p.C647F(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGCTTTCAAGCAAGCAGTTAA	0.358000													18	164					1.45105e-14	2.35246e-14	0.006122	1	0
ASB15	142685	broad.mit.edu	37	7	123254559	123254559	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:123254559G>T	ENST00000451558.1	+	6	524	c.3G>T	c.(1-3)atG>atT	p.M1I	ASB15_ENST00000434204.1_Start_Codon_SNP_p.M1I|ASB15_ENST00000275699.3_Start_Codon_SNP_p.M1I|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Start_Codon_SNP_p.M1I|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Start_Codon_SNP_p.M1I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	1					intracellular signal transduction			p.M1I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGCAGGAATGGATACTAATG	0.348000													41	199					3.43241e-23	6.16222e-23	0.009718	1	0
CD96	10225	broad.mit.edu	37	3	111343207	111343207	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:111343207G>T	ENST00000352690.4	+	10	1517	c.1277G>T	c.(1276-1278)gGc>gTc	p.G426V	CD96_ENST00000283285.5_Missense_Mutation_p.G442V	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	442	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.G442V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTACCCGAGGCTTCAACTAT	0.418000									Opitz Trigonocephaly syndrome				41	153					1.30916e-28	2.39864e-28	0.014410	1	0
LSP1	4046	broad.mit.edu	37	11	1908758	1908758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:1908758G>T	ENST00000406638.2	+	10	2101	c.799G>T	c.(799-801)Gag>Tag	p.E267*	LSP1_ENST00000311604.3_Nonsense_Mutation_p.E329*|LSP1_ENST00000405957.2_Nonsense_Mutation_p.E267*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.E457*|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	329					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.E329*(1)|p.E267*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGGGAAGTATGAGAAGGTGCT	0.577000													13	80					0.00244969	0.00264765	0.020292	1	0
SCN10A	6336	broad.mit.edu	37	3	38764936	38764936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:38764936C>A	ENST00000449082.2	-	18	3336	c.3337G>T	c.(3337-3339)Gac>Tac	p.D1113Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1113					sensory perception	voltage-gated sodium channel complex		p.D1113Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGAAGCAGTCATCTGGTTCT	0.552000													11	89					2.27111e-07	2.91377e-07	0.013537	1	0
SYNE2	23224	broad.mit.edu	37	14	64591827	64591827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:64591827G>T	ENST00000357395.3	+	72	13752	c.2608G>T	c.(2608-2610)Gtg>Ttg	p.V870L	SYNE2_ENST00000555002.1_Missense_Mutation_p.V1119L|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.V870L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V4485L|SYNE2_ENST00000344113.4_Missense_Mutation_p.V4485L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4485					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.V4485L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTACCCAGCGTGACTATGTA	0.373000													13	83					4.3838e-07	5.57086e-07	0.016723	1	0
DCLK3	85443	broad.mit.edu	37	3	36779841	36779841	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:36779841G>T	ENST00000416516.2	-	2	800	c.310C>A	c.(310-312)Ccc>Acc	p.P104T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	104						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P104T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGCTACTGGGTTCTGGCTCC	0.577000													21	222					1.01871e-10	1.46903e-10	0.008871	1	0
BRPF3	27154	broad.mit.edu	37	6	36198206	36198206	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:36198206G>T	ENST00000357641.6	+	13	3691	c.3438G>T	c.(3436-3438)caG>caT	p.Q1146H	BRPF3_ENST00000534694.1_Missense_Mutation_p.Q812H|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000443324.2_Missense_Mutation_p.Q812H|BRPF3_ENST00000339717.7_Missense_Mutation_p.Q876H|BRPF3_ENST00000543502.1_Missense_Mutation_p.Q876H	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1146	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.Q1146H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATTTCAGGCAGTGGCTTCCAA	0.607000													12	70					9.31168e-06	1.11949e-05	0.016723	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503451	140503451	+	Missense_Mutation	SNP	G	G	T	rs149487286		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140503451G>T	ENST00000194152.1	+	1	1871	c.1871G>T	c.(1870-1872)cGc>cTc	p.R624L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		624	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.R624L(1)		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)			GGCGAGGTGCGCACCGCCAGG	0.697000													21	103					1.96895e-08	2.64007e-08	0.016522	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690535	77690535	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:77690535T>A	ENST00000521891.2	+	4	3633	c.3185T>A	c.(3184-3186)cTg>cAg	p.L1062Q	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1036Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1036						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1062Q(1)		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)			AAGTTGAATCTGGTACAACAT	0.532000										HNSCC(33;0.089)			25	157					0	0	0.006320	0	0
ASUN	55726	broad.mit.edu	37	12	27058465	27058465	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:27058465C>G	ENST00000261191.7	-	17	2622	c.2086G>C	c.(2086-2088)Gag>Cag	p.E696Q	ASUN_ENST00000539625.1_Missense_Mutation_p.E595Q	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	696					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.E696Q(1)									TCTGTTGTCTCCATCCTGAAA	0.299000													17	116					0	0	0.006122	0	0
DRD3	1814	broad.mit.edu	37	3	113858370	113858370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:113858370C>A	ENST00000383673.2	-	5	1130	c.700G>T	c.(700-702)Gtc>Ttc	p.V234F	DRD3_ENST00000460779.1_Missense_Mutation_p.V234F|DRD3_ENST00000467632.1_Missense_Mutation_p.V234F|DRD3_ENST00000295881.7_Missense_Mutation_p.V234F	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	234					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.V234F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CCAGGCCTGACACTGTTGCAC	0.527000													55	211					4.46115e-38	8.40393e-38	0.014410	1	0
ZNF638	27332	broad.mit.edu	37	2	71592757	71592757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:71592757G>T	ENST00000409544.1	+	6	2546	c.1916G>T	c.(1915-1917)tGt>tTt	p.C639F	ZNF638_ENST00000355812.3_Missense_Mutation_p.C639F|ZNF638_ENST00000264447.4_Missense_Mutation_p.C639F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.C639F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	639					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.C639F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTATTCGTTGTAAATCAAAG	0.358000													16	52					3.45872e-05	4.0402e-05	0.028581	1	0
PDE1B	5153	broad.mit.edu	37	12	54943667	54943667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:54943667C>A	ENST00000243052.3	+	2	447	c.11C>A	c.(10-12)tCc>tAc	p.S4Y		NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	4					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S4Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGGAGCTGTCCCCCCGCAGT	0.627000													14	85					6.49762e-13	1.02242e-12	0.006122	1	0
HIRA	7290	broad.mit.edu	37	22	19365548	19365548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:19365548C>A	ENST00000263208.5	-	14	1713	c.1457G>T	c.(1456-1458)gGc>gTc	p.G486V	HIRA_ENST00000541063.1_Missense_Mutation_p.G442V|HIRA_ENST00000340170.4_Missense_Mutation_p.G486V|HIRA_ENST00000546308.1_Missense_Mutation_p.G442V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	486	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G486F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CGCCAGGGAGCCCGAGAGGGG	0.542000													20	237					3.51602e-12	5.45237e-12	0.008871	1	0
ITGAX	3687	broad.mit.edu	37	16	31384696	31384696	+	Silent	SNP	C	C	T	rs146985733		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:31384696C>T	ENST00000268296.4	+	20	2614	c.2493C>T	c.(2491-2493)taC>taT	p.Y831Y	ITGAX_ENST00000562522.1_Silent_p.Y831Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	831					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.Y831Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTACCGCTACGTGGCAGAGG	0.627000													19	82					0	0	0.016522	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691010	30691010	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:30691010T>A	ENST00000215790.7	-	5	723	c.559A>T	c.(559-561)Acg>Tcg	p.T187S	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.T99S|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T194S|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.T61S	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	187	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.T187S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGGTACAGCGTGTAGGCCTTC	0.647000													15	92					0	0	0.004990	0	0
SHROOM3	57619	broad.mit.edu	37	4	77680773	77680773	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:77680773G>A	ENST00000296043.6	+	9	6227	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1758	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.E1757E(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCAAGGCTGAGCTACTGAACA	0.453000													9	73					0	0	0.004482	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835222	27835222	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:27835222G>C	ENST00000331442.3	-	1	137	c.86C>G	c.(85-87)gCc>gGc	p.A29G		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	29					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A29G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCGGCGCCGGCAGCCTTCTT	0.612000													8	120					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26164338	26164338	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:26164338A>T	ENST00000335473.7	+	4	705	c.455A>T	c.(454-456)gAt>gTt	p.D152V	MYO18B_ENST00000407587.2_Missense_Mutation_p.D152V|MYO18B_ENST00000536101.1_Missense_Mutation_p.D152V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	152						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.D152V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGAGGGGTGATGTGTTGTTG	0.597000													9	44					0	0	0.004482	0	0
POLR3A	11128	broad.mit.edu	37	10	79781687	79781687	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:79781687C>A	ENST00000372371.3	-	7	1116	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	327					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.G327C(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGGGGAATGCCCGAGAGCTCA	0.537000													17	67					1.2644e-06	1.58421e-06	0.010504	1	0
FEZ1	9638	broad.mit.edu	37	11	125359482	125359482	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:125359482A>G	ENST00000278919.3	-	2	426	c.192T>C	c.(190-192)aaT>aaC	p.N64N	FEZ1_ENST00000524435.1_Silent_p.N64N|FEZ1_ENST00000366139.3_Silent_p.N64N	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	64					axon guidance|cell adhesion|transport	microtubule|plasma membrane		p.N64N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CATCAAATTCATTTACGAGGT	0.488000													22	115					0	0	0.014323	0	0
UAP1	6675	broad.mit.edu	37	1	162536099	162536099	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:162536099A>T	ENST00000271469.3	+	2	543	c.241A>T	c.(241-243)Aca>Tca	p.T81S	UAP1_ENST00000367926.4_Missense_Mutation_p.T81S|UAP1_ENST00000367925.1_Missense_Mutation_p.T81S|UAP1_ENST00000367924.1_Missense_Mutation_p.T81S			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	81					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	p.T81S(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGGCAGTGCTACAAGGGATCA	0.423000													8	45					0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21255419	21255419	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:21255419G>T	ENST00000233242.1	-	10	1286	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	APOB_ENST00000399256.4_Missense_Mutation_p.Q387K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	387	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.Q387T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGGCTGTCCACACTGA	0.507000													11	53					6.40141e-05	7.36506e-05	0.010729	1	0
SLC7A14	57709	broad.mit.edu	37	3	170219103	170219103	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:170219103G>A	ENST00000231706.4	-	3	651	c.336C>T	c.(334-336)gtC>gtT	p.V112V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	112						integral to membrane	amino acid transmembrane transporter activity	p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGTCTTGGGGACTCGAACTC	0.502000													6	43					0	0	0.021553	0	0
CNTN1	1272	broad.mit.edu	37	12	41337888	41337888	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:41337888C>A	ENST00000551295.2	+	14	1716	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	CNTN1_ENST00000547849.1_Silent_p.A533A|CNTN1_ENST00000347616.1_Silent_p.A533A|CNTN1_ENST00000547702.1_Silent_p.A533A|CNTN1_ENST00000360099.3_Silent_p.A533A|CNTN1_ENST00000348761.2_Silent_p.A522A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	533	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.A533A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGATCCTGCCTTGGATCTCA	0.393000													22	50					1.50039e-11	2.24848e-11	0.012319	1	0
XIST	7503	broad.mit.edu	37	X	73070884	73070884	+	RNA	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:73070884A>T	ENST00000429829.1	-	0	1704					NR_001564.2																						GTCTTCGCTGAGTAGCTGGAC	0.502000													33	163					0	0	0.009535	0	0
ARID2	196528	broad.mit.edu	37	12	46245363	46245363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:46245363G>T	ENST00000334344.6	+	15	3629	c.3457G>T	c.(3457-3459)Ggt>Tgt	p.G1153C	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1004C|ARID2_ENST00000444670.1_Missense_Mutation_p.G763C	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1153					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G1153C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATATTGCCAGGTCCACTGAT	0.478000			"""N, S, F"""		hepatocellular carcinoma								24	136					2.79863e-10	4.00339e-10	0.024334	1	0
DAB1	1600	broad.mit.edu	37	1	57756646	57756646	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:57756646G>T	ENST00000371236.2	-	2	320	c.57C>A	c.(55-57)tcC>tcA	p.S19S	DAB1_ENST00000439789.2_Silent_p.S19S|DAB1_ENST00000371230.1_Silent_p.S19S|DAB1_ENST00000420954.2_Silent_p.S19S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.S19S|DAB1_ENST00000414851.2_Silent_p.S19S|DAB1_ENST00000371231.1_Silent_p.S19S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	19					cell differentiation|nervous system development			p.S19S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTTCTGGAGTCTTTCT	0.408000													23	109					1.22574e-08	1.66018e-08	0.014323	1	0
KMT2C	58508	broad.mit.edu	37	7	151960177	151960177	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:151960177G>A	ENST00000355193.2	-	9	1441	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	KMT2C_ENST00000262189.6_Missense_Mutation_p.T408M					lysine (K)-specific methyltransferase 2C									p.T408M(2)									TTTGTCACACGTATCACACAC	0.313000													25	112					0	0	0.018920	0	0
RYR2	6262	broad.mit.edu	37	1	237550607	237550607	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:237550607A>T	ENST00000366574.2	+	9	920	c.603A>T	c.(601-603)ttA>ttT	p.L201F	RYR2_ENST00000360064.6_Missense_Mutation_p.L199F|RYR2_ENST00000542537.1_Missense_Mutation_p.L185F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	201	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L199F(1)		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)			ACGGCAGCTTACACGTGGATG	0.512000													5	52					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152277028	152277028	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:152277028C>T	ENST00000368799.1	-	3	10369	c.10334G>A	c.(10333-10335)aGg>aAg	p.R3445K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3445K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGCCTTCCTCTTCT	0.612000									Ichthyosis				40	656					0	0	0.008740	0	0
ULK1	8408	broad.mit.edu	37	12	132399719	132399719	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:132399719G>T	ENST00000321867.4	+	17	1816	c.1465G>T	c.(1465-1467)Gtc>Ttc	p.V489F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	489					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.V489F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCATGGAGGCGTCCTGGCCAG	0.682000													8	15					0.000157383	0.00017839	0.003080	1	0
MUC17	140453	broad.mit.edu	37	7	100683336	100683336	+	Missense_Mutation	SNP	C	C	A	rs142042551		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100683336C>A	ENST00000306151.4	+	3	8703	c.8639C>A	c.(8638-8640)cCg>cAg	p.P2880Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2880	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2880Q(1)		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)					AGCACCACGCCGGTGGCCAGT	0.488000													87	235					9.24773e-40	1.76069e-39	0.014410	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717000	222717000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:222717000G>T	ENST00000343410.6	-	2	911	c.853C>A	c.(853-855)Cac>Aac	p.H285N		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	285					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.H285N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCGATTGTGGCGGAATTTG	0.478000													40	324					1.04594e-18	1.79352e-18	0.025465	1	0
STK36	27148	broad.mit.edu	37	2	219553476	219553476	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:219553476G>T	ENST00000295709.3	+	12	1716	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L	STK36_ENST00000440309.1_Silent_p.L479L|STK36_ENST00000392106.2_Silent_p.L479L|STK36_ENST00000392105.3_Silent_p.L479L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	479					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.L479L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCGGGTCCTGAGCAGTCTTC	0.547000													48	296					3.94638e-17	6.72392e-17	0.014410	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249119037	249119037	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:249119037G>C	ENST00000366472.5	-	2	1327	c.98C>G	c.(97-99)gCa>gGa	p.A33G	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	33								p.A33G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGGCTCTTCTGCGACTGGGCT	0.582000													8	355					0	0	0.004482	0	0
OOSP2	219990	broad.mit.edu	37	11	59807963	59807963	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:59807963G>C	ENST00000278855.2	+	1	216	c.31G>C	c.(31-33)Gtc>Ctc	p.V11L	PLAC1L_ENST00000532905.1_5'UTR	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		11						extracellular region		p.V11L(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GCTCCTCGCTGTCTTGATTTG	0.478000													18	139					0	0	0.012319	0	0
MDH1	4190	broad.mit.edu	37	2	63824683	63824683	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:63824683A>G	ENST00000233114.8	+	4	785	c.350A>G	c.(349-351)gAt>gGt	p.D117G	MDH1_ENST00000394423.1_Missense_Mutation_p.D117G|MDH1_ENST00000544381.1_Missense_Mutation_p.D28G|MDH1_ENST00000539945.1_Missense_Mutation_p.D135G|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000409476.1_Intron	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	117					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	p.D117G(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	GCAGCCTTAGATAAATACGCC	0.383000													3	41					0	0	0.004672	0	0
FKBP6	8468	broad.mit.edu	37	7	72756806	72756806	+	Splice_Site	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:72756806G>C	ENST00000252037.4	+	8	962		c.e8-1		FKBP6_ENST00000431982.2_Splice_Site|FKBP6_ENST00000413573.2_Splice_Site	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa						protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.?(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCCTCTCCAGCTGTTACAGG	0.478000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	298					0	0	0.028581	0	0
SOX1	6656	broad.mit.edu	37	13	112722333	112722333	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:112722333C>A	ENST00000330949.1	+	1	421	c.361C>A	c.(361-363)Cgg>Agg	p.R121R		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	121					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R121R(1)		lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TTACAAGTACCGGCCGCGCCG	0.697000													6	54					0.0215528	0.0223464	0.021553	1	0
PDZD2	23037	broad.mit.edu	37	5	32089086	32089086	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:32089086C>T	ENST00000438447.1	+	20	5920	c.5532C>T	c.(5530-5532)ggC>ggT	p.G1844G	PDZD2_ENST00000282493.3_Silent_p.G1844G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1844					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G1844G(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAAAAAGGGCGTTACTGTGC	0.478000													27	149					0	0	0.008361	0	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215927	168215927	+	RNA	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:168215927G>T	ENST00000358576.4	-	0	654					NR_026844.1													p.D119E(2)		lung(1)	1						GCAACATTCAGTCTACGATGG	0.413000													4	52					0.00909568	0.00954155	0.009096	1	0
TFDP1	7027	broad.mit.edu	37	13	114287464	114287464	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:114287464G>A	ENST00000375370.5	+	6	550	c.338G>A	c.(337-339)gGc>gAc	p.G113D	TFDP1_ENST00000544902.1_Missense_Mutation_p.G18D|TFDP1_ENST00000538138.1_Missense_Mutation_p.G18D|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	113					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.G113D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GAGAAGAATGGCAAGGGCCTA	0.517000										TSP Lung(29;0.18)			12	61					0	0	0.016723	0	0
HERC2	8924	broad.mit.edu	37	15	28389295	28389295	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:28389295G>A	ENST00000261609.7	-	73	11335	c.11227C>T	c.(11227-11229)Ctt>Ttt	p.L3743F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3743					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L3743F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTAGAGGCAAGGTTGAGTCGG	0.542000													11	163					0	0	0.016723	0	0
OR51M1	390059	broad.mit.edu	37	11	5411262	5411262	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:5411262C>T	ENST00000328611.3	+	1	656	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	212						integral to membrane	olfactory receptor activity	p.L212L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGTATGGACTGATGGTGGT	0.522000													23	86					0	0	0.012319	0	0
HIRA	7290	broad.mit.edu	37	22	19365549	19365549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:19365549C>A	ENST00000263208.5	-	14	1712	c.1456G>T	c.(1456-1458)Ggc>Tgc	p.G486C	HIRA_ENST00000541063.1_Missense_Mutation_p.G442C|HIRA_ENST00000340170.4_Missense_Mutation_p.G486C|HIRA_ENST00000546308.1_Missense_Mutation_p.G442C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	486	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G486F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCCAGGGAGCCCGAGAGGGGG	0.542000													20	237					3.51602e-12	5.45237e-12	0.008871	1	0
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:47426121C>T	ENST00000377045.4	+	7	835	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	214					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S214F(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAAC	0.662000													15	36					0	0	0.028581	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298770	79298770	+	Silent	SNP	G	G	A	rs141856364	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:79298770G>A	ENST00000419573.3	-	15	2146	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.D611D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	624					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.D624D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAAGGAGGCGTCGGACCTGA	0.552000													5	74					0	0	0.021553	0	0
PDCD2	5134	broad.mit.edu	37	6	170887973	170887973	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:170887973C>G	ENST00000541970.1	-	5	926	c.848G>C	c.(847-849)tGt>tCt	p.C283S	PDCD2_ENST00000392090.2_Missense_Mutation_p.C250S|PDCD2_ENST00000542896.1_Missense_Mutation_p.C283S	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	283					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.C283S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CTTGGCACCACAGGGGCAATC	0.363000													6	108					0	0	0.003080	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454719	100454719	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100454719C>T	ENST00000354161.3	+	5	803	c.678C>T	c.(676-678)ggC>ggT	p.G226G	SLC12A9_ENST00000415287.1_Silent_p.G137G|SLC12A9_ENST00000540482.1_Silent_p.G226G|SLC12A9_ENST00000275729.3_Silent_p.G137G|SLC12A9_ENST00000428758.1_Silent_p.G226G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	226						integral to membrane|plasma membrane	cation:chloride symporter activity	p.G226G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTAGGCCTGGCCCCAATGGCT	0.627000													7	150					0	0	0.003080	0	0
PFKL	5211	broad.mit.edu	37	21	45730918	45730918	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:45730918G>A	ENST00000403390.1	+	4	330	c.330G>A	c.(328-330)gaG>gaA	p.E110E	PFKL_ENST00000349048.4_Silent_p.E63E|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	63					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.E110E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AGGGAGGTGAGAACATCAAGC	0.602000													12	92					0	0	0.010729	0	0
KCNG1	3755	broad.mit.edu	37	20	49626477	49626477	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:49626477C>A	ENST00000371571.4	-	2	684	c.399G>T	c.(397-399)gcG>gcT	p.A133A	KCNG1_ENST00000396017.3_Silent_p.A133A|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	133						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A133A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGCTTGCCCGCGCGCAGGA	0.642000													8	60					1.58986e-06	1.96893e-06	0.008291	1	0
WDR13	64743	broad.mit.edu	37	X	48457296	48457296	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:48457296A>T	ENST00000218056.5	+	2	738	c.233A>T	c.(232-234)tAt>tTt	p.Y78F	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	78						cytoplasm|nucleus		p.Y78F(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCGTGCCTATAGCAACAGC	0.662000													11	34					0	0	0.008291	0	0
MUC17	140453	broad.mit.edu	37	7	100680395	100680395	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100680395A>C	ENST00000306151.4	+	3	5762	c.5698A>C	c.(5698-5700)Act>Cct	p.T1900P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1900	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1900P(1)		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)					ACCTGTGACCACTTATGCTCA	0.493000													61	443					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168106328	168106328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:168106328G>T	ENST00000409195.1	+	9	8515	c.8426G>T	c.(8425-8427)gGa>gTa	p.G2809V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587V|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809V|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2634					actin cytoskeleton organization	cell junction	actin binding	p.G2809V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAATTTAGCGGATCTGACAGA	0.398000													24	96					3.6726e-16	6.15938e-16	0.021523	1	0
SCFD2	152579	broad.mit.edu	37	4	54232058	54232058	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:54232058C>A	ENST00000401642.3	-	1	184	c.51G>T	c.(49-51)gtG>gtT	p.V17V	SCFD2_ENST00000388940.4_Silent_p.V17V	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport|vesicle docking involved in exocytosis			p.V17V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTTGGCCAGCACCTGCTCCC	0.627000													16	75					3.45872e-05	4.0402e-05	0.028581	1	0
TERT	7015	broad.mit.edu	37	5	1264701	1264701	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:1264701C>A	ENST00000310581.5	-	11	2718	c.2661G>T	c.(2659-2661)ctG>ctT	p.L887L	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	887	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.L875L(1)|p.L887L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCTCGGACCAGGGTCCTAA	0.582000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	135					1.10923e-09	1.5414e-09	0.016522	1	0
ZNF728	388523	broad.mit.edu	37	19	23159498	23159498	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:23159498G>A	ENST00000594710.1	-	4	786	c.641C>T	c.(640-642)tCa>tTa	p.S214L		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGTAAGGGCTGAGGACCAGTT	0.368000													11	38					0	0	0.008291	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256256	97256256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:97256256G>T	ENST00000523821.1	-	7	1069	c.950C>A	c.(949-951)aCc>aAc	p.T317N	MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000522822.1_Missense_Mutation_p.T196N|MTERFD1_ENST00000287025.3_Missense_Mutation_p.T317N			Q96E29	MTER1_HUMAN	MTERF domain containing 1	317					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	p.T317N(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGGGATTCTGGTGATCATATG	0.328000													16	64					6.72482e-11	9.77658e-11	0.024245	1	0
AC005609.1	0	broad.mit.edu	37	5	140242795	140242795	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140242795G>A	ENST00000502505.1	-	1	429	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron																							GCGGAGAGCAGCCAAGCGAGG	0.672000													4	30					0	0	0.009096	0	0
RBL1	5933	broad.mit.edu	37	20	35632118	35632118	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:35632118C>A	ENST00000373664.3	-	21	3089	c.3023G>T	c.(3022-3024)gGc>gTc	p.G1008V	RBL1_ENST00000344359.3_Missense_Mutation_p.G1008V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1008					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.G1008F(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAAGGGCTGCCATTGAACTT	0.438000													23	141					7.4402e-23	1.32684e-22	0.021523	1	0
C4orf51	646603	broad.mit.edu	37	4	146601435	146601435	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:146601435G>C	ENST00000438731.1	+	1	80	c.80G>C	c.(79-81)aGa>aCa	p.R27T		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	27								p.R27T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GATCTGATCAGACGCAAGGCT	0.468000													26	141					0	0	0.027356	0	0
PRDM9	56979	broad.mit.edu	37	5	23509208	23509208	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:23509208C>A	ENST00000296682.3	+	2	248	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	22					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P22P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCGGAAGCCCATGGTGAGAA	0.562000										HNSCC(3;0.000094)			17	52					1.01871e-10	1.46903e-10	0.008871	1	0
KLK15	55554	broad.mit.edu	37	19	51330248	51330248	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:51330248G>T	ENST00000326856.4	-	4	493	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	KLK15_ENST00000596931.1_Missense_Mutation_p.R122S|KLK15_ENST00000598239.1_Missense_Mutation_p.R123S|KLK15_ENST00000301421.2_Missense_Mutation_p.R123S|KLK15_ENST00000416184.1_Intron	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	123	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R123S(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCGCGGGGCGCACCTGGGGG	0.701000													29	87					4.34311e-12	6.6769e-12	0.015359	1	0
PLXNA4	91584	broad.mit.edu	37	7	131872244	131872244	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:131872244G>T	ENST00000359827.3	-	15	3941	c.2979C>A	c.(2977-2979)ccC>ccA	p.P993P	PLXNA4_ENST00000321063.4_Silent_p.P993P			Q9HCM2	PLXA4_HUMAN	plexin A4	993	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.P993P(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAAGAGACAGGGCTGCTTTC	0.547000													84	561					3.99893e-49	7.6408e-49	0.014410	1	0
LY6D	8581	broad.mit.edu	37	8	143867039	143867039	+	Silent	SNP	C	C	T	rs138562115		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:143867039C>T	ENST00000301263.4	-	2	192	c.117G>A	c.(115-117)ccG>ccA	p.P39P	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	39	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding	p.P39P(1)		large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGAGCTGGCCGGGCAGACCA	0.647000													33	97					0	0	0.019004	0	0
COL11A1	1301	broad.mit.edu	37	1	103463891	103463891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:103463891C>A	ENST00000358392.2	-	25	2524	c.2207G>T	c.(2206-2208)gGa>gTa	p.G736V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G608V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G724V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G685V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	724	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G736V(1)|p.G724V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGAAGTCCAGCAAGTCC	0.303000													5	24					0.014758	0.0153609	0.014758	1	0
ASIC1	41	broad.mit.edu	37	12	50471085	50471085	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:50471085T>A	ENST00000228468.4	+	4	1033	c.648T>A	c.(646-648)aaT>aaA	p.N216K	ASIC1_ENST00000552438.1_Missense_Mutation_p.N250K|ASIC1_ENST00000447966.2_Missense_Mutation_p.N216K	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	216					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.N216K(1)								Amiloride(DB00594)	GGACGGGCAATGGGCTGGAAA	0.617000													4	100					0	0	0.009096	0	0
GCM1	8521	broad.mit.edu	37	6	52993667	52993667	+	Silent	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:52993667A>T	ENST00000259803.7	-	6	859	c.648T>A	c.(646-648)ggT>ggA	p.G216G		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	216						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G216G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACTGTAACTACCAGGCAATT	0.438000													29	148					0	0	0.008361	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594338	140594338	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140594338G>T	ENST00000341948.4	+	1	830	c.643G>T	c.(643-645)Gca>Tca	p.A215S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A215S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACACTCACAGCACTGGATGG	0.547000													28	119					2.4375e-19	4.20665e-19	0.007291	1	0
SLC24A2	25769	broad.mit.edu	37	9	19597236	19597236	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:19597236T>C	ENST00000341998.2	-	4	1181	c.1120A>G	c.(1120-1122)Act>Gct	p.T374A	SLC24A2_ENST00000286344.3_Intron	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	374					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.T374A(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTTCTTCAGTCATTGTGTCA	0.318000													4	22					0	0	0.009096	0	0
DIP2A	23181	broad.mit.edu	37	21	47976893	47976893	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:47976893G>C	ENST00000318711.7	+	30	3726	c.3543G>C	c.(3541-3543)aaG>aaC	p.K1181N	DIP2A_ENST00000417564.2_Missense_Mutation_p.K1180N|DIP2A_ENST00000400274.1_Missense_Mutation_p.K1176N	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1180					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.K1180N(1)|p.K1181N(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTCCATAAAGCTGCAGTGTG	0.522000													7	8					0	0	0.003080	0	0
CPS1	1373	broad.mit.edu	37	2	211527847	211527847	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:211527847G>T	ENST00000233072.5	+	33	4124	c.3927_splice	c.e33-1	p.A1310_splice	CPS1_ENST00000430249.2_Splice_Site_p.A1316_splice|CPS1_ENST00000451903.2_Splice_Site_p.A859_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1310					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A1316S(1)|p.A1310S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTCCAACAGGCTCCCATGTT	0.408000													14	56					2.31682e-05	2.72418e-05	0.024245	1	0
DSC2	1824	broad.mit.edu	37	18	28648013	28648013	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:28648013T>C	ENST00000280904.6	-	16	3117	c.2674A>G	c.(2674-2676)Agg>Ggg	p.R892G	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	892					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R892G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCTAGTGTCCTAAATTTGGGC	0.398000													3	86					0	0	0.009096	0	0
MET	4233	broad.mit.edu	37	7	116340082	116340082	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:116340082A>G	ENST00000397752.3	+	2	1144	c.944A>G	c.(943-945)aAt>aGt	p.N315S	MET_ENST00000436117.2_Missense_Mutation_p.N315S|MET_ENST00000318493.6_Missense_Mutation_p.N315S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	315	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.N315S(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTGTTTAATATACTTCAG	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				12	72					0	0	0.010729	0	0
B4GALT6	9331	broad.mit.edu	37	18	29206276	29206276	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:29206276T>A	ENST00000306851.5	-	8	1267	c.971A>T	c.(970-972)cAc>cTc	p.H324L	B4GALT6_ENST00000237019.7_Missense_Mutation_p.H285L|B4GALT6_ENST00000383131.3_Missense_Mutation_p.H285L	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	324					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	p.H324L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			ACCTCTATGGTGATGAGGAAT	0.353000													8	37					0	0	0.004482	0	0
SLIT1	6585	broad.mit.edu	37	10	98807553	98807553	+	Missense_Mutation	SNP	C	C	A	rs139828471		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:98807553C>A	ENST00000266058.4	-	16	1773	c.1528G>T	c.(1528-1530)Gac>Tac	p.D510Y	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.D510Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	510	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.D510Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGACCACGTCGCTGTTGCAC	0.652000													12	81					0.00010058	0.000114979	0.013537	1	0
MYPN	84665	broad.mit.edu	37	10	69881917	69881917	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:69881917C>A	ENST00000358913.5	+	2	1210	c.722C>A	c.(721-723)gCt>gAt	p.A241D	MYPN_ENST00000540630.1_Missense_Mutation_p.A241D|MYPN_ENST00000373675.3_Missense_Mutation_p.A241D|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	241	Interaction with CARP.					nucleus|sarcomere	actin binding	p.A241D(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCGGAGCAGGCTGCCAGTGAG	0.557000													12	37					4.3838e-07	5.57086e-07	0.016723	1	0
CCDC47	57003	broad.mit.edu	37	17	61842180	61842180	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:61842180C>T	ENST00000225726.5	-	3	674	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CCDC47_ENST00000403162.3_Missense_Mutation_p.D98N|CCDC47_ENST00000582252.1_Missense_Mutation_p.D98N	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	98						integral to membrane	protein binding	p.D98N(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTTCATCATCATATGGTTCA	0.388000													18	141					0	0	0.008871	0	0
IGSF5	150084	broad.mit.edu	37	21	41165524	41165524	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:41165524G>A	ENST00000380588.4	+	8	1215	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	371						integral to membrane|tight junction		p.C371Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AACAGTAGCTGTGGCCCTCCT	0.418000													21	145					0	0	0.014323	0	0
LRRK2	120892	broad.mit.edu	37	12	40692296	40692296	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:40692296G>T	ENST00000298910.7	+	24	3405		c.e24+1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.?(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTAGAAGGGTAAGAAAGAG	0.358000													21	109					2.70639e-06	3.34393e-06	0.014323	1	0
ABLIM1	3983	broad.mit.edu	37	10	116197683	116197683	+	Splice_Site	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:116197683T>A	ENST00000533213.2	-	22	2264	c.1962_splice	c.e22-1	p.I655_splice	ABLIM1_ENST00000369253.2_Splice_Site_p.I338_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.I715_splice|ABLIM1_ENST00000369266.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000369252.4_Splice_Site_p.I655_splice			O14639	ABLM1_HUMAN	actin binding LIM protein 1	715					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.I655L(1)|p.I392L(1)|p.I715L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TATGGAAATATCTGAGAAGAA	0.418000													28	133					0	0	0.008361	0	0
MUC2	4583	broad.mit.edu	37	11	1080968	1080968	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:1080968C>A	ENST00000441003.2	+	10	1379	c.1352C>A	c.(1351-1353)gCt>gAt	p.A451D	MUC2_ENST00000359061.5_Missense_Mutation_p.A451D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	451	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.A451D(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGCTGCTGGCTGACAAGAAG	0.637000													11	78					4.68919e-08	6.1791e-08	0.008291	1	0
PABPC5	140886	broad.mit.edu	37	X	90690948	90690948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:90690948C>A	ENST00000312600.3	+	2	586	c.372C>A	c.(370-372)taC>taA	p.Y124*	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	124	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.Y124*(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCCTGTTTTACTTATTTTCTG	0.443000													40	202					5.20837e-25	9.41378e-25	0.008740	1	0
BSND	7809	broad.mit.edu	37	1	55474212	55474212	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:55474212G>A	ENST00000371265.4	+	4	1128	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	292						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.E292K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGAGAAGGAAGAGGAAGACCT	0.587000													14	161					0	0	0.028581	0	0
BOLA1	51027	broad.mit.edu	37	1	149871771	149871771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:149871771C>G	ENST00000369153.2	+	3	823	c.159C>G	c.(157-159)aaC>aaG	p.N53K	BOLA1_ENST00000369150.1_Missense_Mutation_p.N53K|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.N53K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	53						extracellular region	protein binding	p.N53K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCTTCGCAACGAGAGCGGTG	0.682000													4	66					0	0	0.014758	0	0
CUL7	9820	broad.mit.edu	37	6	43020118	43020118	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:43020118G>C	ENST00000535468.1	-	2	651	c.565C>G	c.(565-567)Cta>Gta	p.L189V	CUL7_ENST00000265348.3_Missense_Mutation_p.L137V	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	137					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L137V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGTGAAGTAGAGGAGCAGGA	0.557000													12	73					0	0	0.010729	0	0
PSMC6	5706	broad.mit.edu	37	14	53180639	53180639	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:53180639G>T	ENST00000445930.2	+	7	530	c.524G>T	c.(523-525)cGt>cTt	p.R175L	PSMC6_ENST00000606149.1_Missense_Mutation_p.R161L			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	p.R175L(1)|p.R161L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTATTTCAGCGTGTAGGAATA	0.308000													19	118					2.39187e-15	3.94954e-15	0.008871	1	0
TRPC4	7223	broad.mit.edu	37	13	38225593	38225593	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:38225593G>C	ENST00000379705.3	-	8	2745	c.1888C>G	c.(1888-1890)Cat>Gat	p.H630D	TRPC4_ENST00000447043.1_Missense_Mutation_p.H630D|TRPC4_ENST00000338947.5_Missense_Mutation_p.H457D|TRPC4_ENST00000358477.2_Missense_Mutation_p.H630D|TRPC4_ENST00000379681.3_Missense_Mutation_p.H630D|TRPC4_ENST00000355779.2_Missense_Mutation_p.H630D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.H457D|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	630	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.H630D(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATATCTGCATGGTCCTGAACA	0.428000													7	97					0	0	0.003080	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674829	9674829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:9674829C>A	ENST00000330255.4	-	6	927	c.915G>T	c.(913-915)aaG>aaT	p.K305N	DHRS7C_ENST00000571134.1_Missense_Mutation_p.K304N	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	305						extracellular region	binding|oxidoreductase activity	p.K305N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GGACATTGAGCTTCTCCTTCA	0.582000													6	24					0.00116845	0.00127315	0.021553	1	0
RBL1	5933	broad.mit.edu	37	20	35632119	35632119	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:35632119C>A	ENST00000373664.3	-	21	3088	c.3022G>T	c.(3022-3024)Ggc>Tgc	p.G1008C	RBL1_ENST00000344359.3_Missense_Mutation_p.G1008C	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1008					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.G1008F(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GAAGGGCTGCCATTGAACTTG	0.438000													23	142					7.4402e-23	1.32684e-22	0.021523	1	0
OR5M1	390168	broad.mit.edu	37	11	56380709	56380709	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:56380709C>T	ENST00000526538.1	-	1	269	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K90N(1)|p.K90K(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGGAGATGGTCTTCTGTTCTG	0.448000													12	62					0	0	0.016723	0	0
CARD14	79092	broad.mit.edu	37	17	78165189	78165189	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:78165189G>T	ENST00000573882.1	+	10	1693	c.1157G>T	c.(1156-1158)cGc>cTc	p.R386L	CARD14_ENST00000392434.2_Missense_Mutation_p.R149L|CARD14_ENST00000344227.2_Missense_Mutation_p.R386L|CARD14_ENST00000570421.1_Missense_Mutation_p.R386L|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	386					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.R386L(1)|p.R149L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GACTCCCTCCGCAGGCAGGTG	0.662000													22	115					1.22574e-08	1.66018e-08	0.014323	1	0
HYI	81888	broad.mit.edu	37	1	43918609	43918609	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:43918609G>A	ENST00000372434.1	-	3	382	c.351C>T	c.(349-351)ggC>ggT	p.G117G	HYI_ENST00000486909.1_Intron|HYI_ENST00000372426.1_Silent_p.G44G|HYI_ENST00000372425.4_Intron|HYI_ENST00000583037.1_Intron|HYI_ENST00000372432.1_Intron	NM_001243526.1	NP_001230455.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	95							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				aatacaccaggcctcctcttg	0.537000													4	27					0	0	0.021553	0	0
SPZ1	84654	broad.mit.edu	37	5	79617271	79617271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:79617271C>A	ENST00000296739.4	+	1	1482	c.1237C>A	c.(1237-1239)Cat>Aat	p.H413N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H413N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GTTCAATATTCATGTTGCAAG	0.373000													22	127					1.55795e-14	2.51055e-14	0.012319	1	0
SERPINA4	5267	broad.mit.edu	37	14	95030082	95030082	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:95030082T>C	ENST00000557004.1	+	2	684	c.263T>C	c.(262-264)aTg>aCg	p.M88T	SERPINA4_ENST00000298841.5_Missense_Mutation_p.M88T|SERPINA4_ENST00000555095.1_Missense_Mutation_p.M88T|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	88					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.M88T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCTACGCCATGCTTTCCCTG	0.597000													11	55					0	0	0.013537	0	0
ETAA1	54465	broad.mit.edu	37	2	67630780	67630780	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:67630780G>A	ENST00000272342.5	+	5	1096	c.966G>A	c.(964-966)gaG>gaA	p.E322E	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	322						cytoplasm|nucleus		p.E322E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAAAGAGGAGAAAATCATTA	0.373000													4	84					0	0	0.014758	0	0
PEAR1	375033	broad.mit.edu	37	1	156880491	156880491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:156880491C>A	ENST00000338302.3	+	16	2132	c.1907C>A	c.(1906-1908)aCc>aAc	p.T636N	PEAR1_ENST00000292357.7_Missense_Mutation_p.T636N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	636	EGF-like 8.					integral to membrane		p.T636N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGAACGGGACCTGCTACTGC	0.622000													5	31					2.17888e-05	2.56762e-05	0.006214	1	0
BCL11B	64919	broad.mit.edu	37	14	99641785	99641785	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:99641785G>A	ENST00000345514.2	-	3	1441	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	BCL11B_ENST00000357195.3_Missense_Mutation_p.A463V|BCL11B_ENST00000443726.2_Missense_Mutation_p.A269V	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	463						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGAGCACGCGTGGTCGCA	0.657000			T	TLX3	T-ALL								3	34					0	0	0.004672	0	0
FLG2	388698	broad.mit.edu	37	1	152323527	152323527	+	Silent	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:152323527G>C	ENST00000388718.5	-	3	6807	c.6735C>G	c.(6733-6735)tcC>tcG	p.S2245S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2245							calcium ion binding|structural molecule activity	p.S2245S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTTGTCCTGGACCCTCTCT	0.527000													73	483					0	0	0.014410	0	0
GRIK1	2897	broad.mit.edu	37	21	30934151	30934151	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:30934151T>A	ENST00000399914.1	-	14	2626	c.2105A>T	c.(2104-2106)tAt>tTt	p.Y702F	GRIK1_ENST00000327783.4_Missense_Mutation_p.Y717F|GRIK1_ENST00000399909.1_Missense_Mutation_p.Y702F|GRIK1_ENST00000535441.1_Missense_Mutation_p.Y719F|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y702F|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y717F|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000399907.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y719F			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	717					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.Y717F(1)|p.Y702F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCTTCTCATAGGTGGAGAT	0.493000													4	33					0	0	0.009096	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311549	103311549	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:103311549G>C	ENST00000233969.2	+	7	1705	c.1563G>C	c.(1561-1563)tgG>tgC	p.W521C	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	521						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.W521C(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GTGGACATTGGGGTCACAACT	0.373000													13	219					0	0	0.024245	0	0
DOCK2	1794	broad.mit.edu	37	5	169509814	169509814	+	Silent	SNP	G	G	A	rs140457281	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:169509814G>A	ENST00000256935.8	+	52	5525	c.5445G>A	c.(5443-5445)tcG>tcA	p.S1815S	DOCK2_ENST00000520908.1_Silent_p.S1307S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S876S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1815					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1815S(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCAAATCGGCTGAAGAAG	0.507000													11	61					0	0	0.010729	0	0
SYCP3	50511	broad.mit.edu	37	12	102131692	102131692	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:102131692A>T	ENST00000392927.3	-	2	153	c.22T>A	c.(22-24)Tat>Aat	p.Y8N	SYCP3_ENST00000266743.2_Missense_Mutation_p.Y8N|SYCP3_ENST00000392924.1_Missense_Mutation_p.Y8N	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	8					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	p.Y8N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCCTGGAATACTTTTTTCCG	0.378000													60	208					0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872757	51872757	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:51872757C>T	ENST00000371497.5	+	2	3647	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	TSHZ2_ENST00000603338.2_Silent_p.D917D|TSHZ2_ENST00000329613.6_Silent_p.D917D|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	920					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D920D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAACATGGACAAAGGCCACC	0.473000													17	82					0	0	0.006122	0	0
UCP2	7351	broad.mit.edu	37	11	73686562	73686562	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:73686562C>T	ENST00000310473.3	-	7	1631	c.789G>A	c.(787-789)aaG>aaA	p.K263K	UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	263					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	p.K263K(1)		large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGGGCCCCTCCTTCTGGAGCA	0.587000													27	136					0	0	0.010818	0	0
TNN	63923	broad.mit.edu	37	1	175092757	175092757	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:175092757G>A	ENST00000239462.4	+	12	2985	c.2872G>A	c.(2872-2874)Ggg>Agg	p.G958R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	958	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G958R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCCCAGAAGGGGGCCCAGGA	0.612000													14	108					0	0	0.028581	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455027	84455027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:84455027C>T	ENST00000377084.2	-	1	1501	c.616G>A	c.(616-618)Gag>Aag	p.E206K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	206						integral to membrane		p.E206K(1)		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)		AGCAGGATCTCCGCAATACCA	0.547000													12	90					0	0	0.010729	0	0
BRSK1	84446	broad.mit.edu	37	19	55816254	55816254	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:55816254G>A	ENST00000309383.1	+	14	1960	c.1683G>A	c.(1681-1683)ctG>ctA	p.L561L	BRSK1_ENST00000590333.1_Silent_p.L577L|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.L256L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	561					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.L561L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACAGCTTCCTGGGCTCCCCTC	0.657000													20	42					0	0	0.014323	0	0
OBSCN	84033	broad.mit.edu	37	1	228466474	228466474	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:228466474G>T	ENST00000570156.2	+	31	8305	c.8231G>T	c.(8230-8232)cGg>cTg	p.R2744L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2315L|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1162L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2315L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1745	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R2499L(1)|p.R2315L(1)|p.R2369L(1)|p.R2598L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGTGTCCCGGGCCAGCGCC	0.652000													10	50					0.00829132	0.00874922	0.008291	1	0
RGS4	5999	broad.mit.edu	37	1	163039278	163039278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:163039278T>A	ENST00000421743.2	+	2	455	c.295T>A	c.(295-297)Tgc>Agc	p.C99S	RGS4_ENST00000531057.1_Missense_Mutation_p.C2S|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.C2S|RGS4_ENST00000367908.4_Missense_Mutation_p.C2S|RGS4_ENST00000527809.1_Intron	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	2	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.C99S(1)|p.C2S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AAATAAGATGTGCAAAGGGCT	0.458000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	57					0	0	0.020292	0	0
PDZD4	57595	broad.mit.edu	37	X	153068961	153068961	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:153068961G>T	ENST00000164640.4	-	8	2348	c.2157C>A	c.(2155-2157)aaC>aaA	p.N719K	PDZD4_ENST00000544474.1_Missense_Mutation_p.N610K|PDZD4_ENST00000393758.2_Missense_Mutation_p.N644K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	719						cell cortex		p.N719K(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCAATGATGTTGAGCTCGG	0.622000													7	105					0.00307968	0.00330849	0.003080	1	0
AKAP12	9590	broad.mit.edu	37	6	151669913	151669913	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:151669913G>A	ENST00000402676.2	+	4	627	c.387G>A	c.(385-387)gcG>gcA	p.A129A	AKAP12_ENST00000253332.1_Silent_p.A129A|AKAP12_ENST00000359755.5_Silent_p.A24A|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000354675.6_Silent_p.A31A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	129					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.A129A(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTAAGTCAGCGGTTGTTCACG	0.468000													8	86					0	0	0.006214	0	0
ABCB1	5243	broad.mit.edu	37	7	87179275	87179275	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:87179275G>T	ENST00000265724.3	-	14	1863	c.1446C>A	c.(1444-1446)acC>acA	p.T482T	ABCB1_ENST00000543898.1_Silent_p.T418T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	482	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.T482T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAGCTATCGTGGTGGCAAACA	0.433000													45	240					5.7616e-29	1.06292e-28	0.014410	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168296	10168296	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:10168296G>T	ENST00000396502.1	+	5	778	c.650G>T	c.(649-651)tGg>tTg	p.W217L	CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217L|RP11-133L14.5_ENST00000544225.1_RNA	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	217	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding	p.W217L(2)		central_nervous_system(2)|large_intestine(2)|lung(5)	9						AGTTGGTTCTGGGAAGATGGC	0.418000													30	101					2.08457e-15	3.45277e-15	0.010818	1	0
GP2	2813	broad.mit.edu	37	16	20331623	20331623	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:20331623G>T	ENST00000302555.5	-	5	968	c.819C>A	c.(817-819)acC>acA	p.T273T	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.T276T|GP2_ENST00000381360.5_Silent_p.T129T|GP2_ENST00000341642.5_Silent_p.T126T			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	276	ZP.					anchored to membrane|extracellular region|plasma membrane		p.T273T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGACGGGGCTGGTCACAGATA	0.567000													12	129					0.000308642	0.000346898	0.024245	1	0
CTNNBL1	56259	broad.mit.edu	37	20	36488711	36488711	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:36488711G>A	ENST00000405275.2	+	16	1730	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G271E|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G336E|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.G523E			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	523					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AACATGCGAGGAAGCTCCATC	0.448000													7	225					0	0	0.004482	0	0
GATAD2A	54815	broad.mit.edu	37	19	19576209	19576209	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:19576209C>G	ENST00000404158.1	+	4	473	c.55C>G	c.(55-57)Cca>Gca	p.P19A	GATAD2A_ENST00000358713.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000252577.5_Missense_Mutation_p.P19A|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000494516.1_3'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	19					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P19A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TGAACGGGACCCAACAGAGGA	0.493000													26	134					0	0	0.027356	0	0
ESPNL	339768	broad.mit.edu	37	2	239013434	239013434	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:239013434C>G	ENST00000343063.3	+	3	886	c.623C>G	c.(622-624)gCc>gGc	p.A208G	ESPNL_ENST00000409169.1_Missense_Mutation_p.A208G	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	208								p.A208G(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCATGAGCGCCCTGCACGCT	0.672000													3	7					0	0	0.004672	0	0
MROH8	140699	broad.mit.edu	37	20	35737068	35737068	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:35737068C>A	ENST00000400441.3	-	23	2914		c.e23-1		MROH8_ENST00000217333.8_Splice_Site|MROH8_ENST00000441008.2_Splice_Site					maestro heat-like repeat family member 8									p.?(3)									GATAAAAGGCCTAAAGGCAGG	0.423000													6	35					1.06961e-07	1.39232e-07	0.003080	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155921320	155921320	+	Missense_Mutation	SNP	G	G	A	rs138090439	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:155921320G>A	ENST00000368316.1	-	23	2599	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A710V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.A738V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A737V|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.A739V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	738					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.A710V(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCGCTGTAACGCCTCCTGAGG	0.562000													18	151					0	0	0.010504	0	0
MYLK	4638	broad.mit.edu	37	3	123419703	123419703	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:123419703C>A	ENST00000360772.3	-	19	2990	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V	MYLK_ENST00000475616.1_Missense_Mutation_p.G871V|MYLK_ENST00000360304.3_Missense_Mutation_p.G871V|MYLK_ENST00000359169.1_Missense_Mutation_p.G871V|MYLK_ENST00000346322.5_Missense_Mutation_p.G802V			Q15746	MYLK_HUMAN	myosin light chain kinase	871	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.G871V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCACCCCTCGCACGTC	0.652000													28	130					1.1423e-28	2.10011e-28	0.009535	1	0
FYCO1	79443	broad.mit.edu	37	3	46023127	46023127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:46023127C>A	ENST00000296137.2	-	3	302	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E33*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	33					transport	integral to membrane	metal ion binding|protein binding	p.E33*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGATGGGTTCCCCTGCTTCC	0.398000													15	136					1.37285e-15	2.28098e-15	0.028581	1	0
NOTCH1	4851	broad.mit.edu	37	9	139413994	139413994	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:139413994C>G	ENST00000277541.6	-	5	841	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	256					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	p.E256Q(2)		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)		TCGATATTTTCCTCACAGTTC	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			43	222					0	0	0.009718	0	0
KMT2C	58508	broad.mit.edu	37	7	151874497	151874497	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:151874497G>C	ENST00000355193.2	-	38	8259	c.8041C>G	c.(8041-8043)Cct>Gct	p.P2681A	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2681A					lysine (K)-specific methyltransferase 2C									p.P2681A(2)									CCATCAGAAGGCTGGGTGGTT	0.428000													12	112					0	0	0.020292	0	0
SPINK8	646424	broad.mit.edu	37	3	48362530	48362530	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:48362530C>G	ENST00000434006.1	-	2	101	c.102G>C	c.(100-102)caG>caC	p.Q34H		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	34						extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTTTGTCTAGCTGACCTCTTT	0.478000													2	8					0	0	0.004672	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529464	5529464	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:5529464G>C	ENST00000311659.4	-	2	1472	c.1325C>G	c.(1324-1326)cCt>cGt	p.P442R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	442								p.P442R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAGATCAGGCAAGTTTGT	0.537000													19	135					0	0	0.007413	0	0
HTR3C	170572	broad.mit.edu	37	3	183773977	183773977	+	Missense_Mutation	SNP	C	C	A	rs149370364		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:183773977C>A	ENST00000318351.1	+	4	326	c.292C>A	c.(292-294)Cct>Act	p.P98T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	98						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P98T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGGACAATCCTTTCATTAA	0.478000													12	129					0.00010058	0.000114979	0.013537	1	0
BAG6	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:31612763C>T	ENST00000404765.2	-	10	1618	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	449	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.Q443Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTCCACACTCTGGTGGGAAA	0.587000													21	360					0	0	0.016522	0	0
HAS1	3036	broad.mit.edu	37	19	52222512	52222512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:52222512C>A	ENST00000540069.2	-	2	706	c.646G>T	c.(646-648)Gag>Tag	p.E216*	HAS1_ENST00000222115.1_Nonsense_Mutation_p.E217*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.E224*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.E71*			Q92839	HAS1_HUMAN	hyaluronan synthase 1	217					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.E217*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TACATGACCTCGCGCTTGCCG	0.662000													5	43					0.000602214	0.000667049	0.014758	1	0
COL4A6	1288	broad.mit.edu	37	X	107422549	107422549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:107422549C>A	ENST00000394872.2	-	26	2485	c.2254G>T	c.(2254-2256)Gac>Tac	p.D752Y	COL4A6_ENST00000372216.4_Missense_Mutation_p.D752Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.D751Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.D751Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D751Y			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	752	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.D751Y(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAAAGATGTCACCAGTGGCT	0.547000									Alport syndrome with Diffuse Leiomyomatosis				13	135					5.50884e-06	6.6379e-06	0.013537	1	0
BRD8	10902	broad.mit.edu	37	5	137488440	137488440	+	Missense_Mutation	SNP	C	C	G	rs148605042	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:137488440C>G	ENST00000254900.5	-	21	2958	c.2587G>C	c.(2587-2589)Gag>Cag	p.E863Q		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	863					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.E863Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAACCCACTCGTGTCCCATC	0.438000													33	147					0	0	0.017118	0	0
ZEB2	9839	broad.mit.edu	37	2	145157678	145157678	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:145157678G>C	ENST00000558170.2	-	8	2260	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C	ZEB2_ENST00000409487.3_Missense_Mutation_p.S359C|ZEB2_ENST00000303660.4_Missense_Mutation_p.S359C|ZEB2_ENST00000539609.3_Missense_Mutation_p.S335C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	359						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.S359C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTAGGAGAAGAAGAAACAGA	0.373000													18	61					0	0	0.006122	0	0
JPH2	57158	broad.mit.edu	37	20	42815297	42815297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:42815297C>A	ENST00000372980.3	-	1	921	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C	JPH2_ENST00000342272.3_Missense_Mutation_p.G17C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	17	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G17C(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTCCCAGCCCCCGCAGTAC	0.642000													25	90					2.44723e-14	3.90826e-14	0.024334	1	0
CACNA1F	778	broad.mit.edu	37	X	49063289	49063289	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:49063289C>G	ENST00000376265.2	-	45	5353	c.5292G>C	c.(5290-5292)ggG>ggC	p.G1764G	CACNA1F_ENST00000376251.1_Silent_p.G1699G|CACNA1F_ENST00000323022.5_Silent_p.G1753G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1764					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G1764G(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACGGGGGAGTCCCTGCCTGCT	0.637000													12	77					0	0	0.024245	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268141	103268141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:103268141C>G	ENST00000217926.5	-	1	118	c.92G>C	c.(91-93)gGa>gCa	p.G31A		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	31					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.G31A(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGAGGAAGGTCCAGCCATGGC	0.612000													4	29					0	0	0.009096	0	0
ADCY1	107	broad.mit.edu	37	7	45744158	45744158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:45744158G>T	ENST00000297323.7	+	17	2782	c.2760G>T	c.(2758-2760)aaG>aaT	p.K920N		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	920					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.K920N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGAAGATCAAGACCATCGGGA	0.502000													27	170					1.74807e-11	2.60506e-11	0.010818	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140869878	140869878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140869878C>A	ENST00000252087.1	+	1	1071	c.1071C>A	c.(1069-1071)aaC>aaA	p.N357K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		357	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N357K(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGGCCAACCCTGTCCTAG	0.542000													14	86					2.35188e-11	3.48548e-11	0.006122	1	0
NID1	4811	broad.mit.edu	37	1	236187423	236187423	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:236187423T>A	ENST00000264187.6	-	9	2157	c.2075A>T	c.(2074-2076)cAg>cTg	p.Q692L	NID1_ENST00000366595.3_Missense_Mutation_p.Q692L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	692	EGF-like 2.				cell-matrix adhesion	basement membrane	calcium ion binding	p.Q692L(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCAGGTGAACTGTGTCCTGGG	0.587000													6	55					0	0	0.004482	0	0
NRROS	375387	broad.mit.edu	37	3	196388131	196388131	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:196388131G>T	ENST00000328557.4	+	3	1820	c.1617G>T	c.(1615-1617)agG>agT	p.R539S		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species									p.R539S(1)									GGAATCTCAGGGACTTAGATC	0.567000													23	217					2.44723e-14	3.90826e-14	0.024334	1	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611702	44611702	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:44611702C>G	ENST00000273320.3	+	6	1529	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S367C|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7									p.S367C(1)									CCACCTCTGTCTTCCAGTCCT	0.378000													17	156					0	0	0.007413	0	0
MYBL2	4605	broad.mit.edu	37	20	42340215	42340215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:42340215C>T	ENST00000217026.4	+	11	1820	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	MYBL2_ENST00000396863.4_Missense_Mutation_p.P541S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	565						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P565S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGACATCAGGCCCGAGAAGCA	0.632000													6	28					0	0	0.001984	0	0
CLNK	116449	broad.mit.edu	37	4	10492234	10492234	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:10492234A>G	ENST00000226951.6	-	19	1383	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	CLNK_ENST00000515667.1_Missense_Mutation_p.F120L	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	382	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.F382L(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						ACTGAATCAAACTTCTGAAAC	0.363000													2	10					0	0	0.004672	0	0
PRPF6	24148	broad.mit.edu	37	20	62612636	62612636	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:62612636C>T	ENST00000535781.1	+	1	149	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	13					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.A13V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGGATGCCCGCGCCCCTCGGC	0.677000													5	15					0	0	0.004482	0	0
NEK5	341676	broad.mit.edu	37	13	52663447	52663447	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:52663447G>T	ENST00000355568.4	-	14	1350	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	404							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P461H(1)|p.P404H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTACTCAGCAGGCCTTAGAAA	0.328000													8	28					1.58986e-06	1.96893e-06	0.008291	1	0
SETD4	54093	broad.mit.edu	37	21	37429497	37429497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:37429497C>A	ENST00000399215.1	-	2	1451	c.79G>T	c.(79-81)Gag>Tag	p.E27*	SETD4_ENST00000399212.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.E27*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.E27*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Nonsense_Mutation_p.E27*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.E3*			Q9NVD3	SETD4_HUMAN	SET domain containing 4	27								p.E27*(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TTGTGGCTCTCATTCACTATC	0.383000													19	109					4.96729e-08	6.52948e-08	0.008871	1	0
TDRD5	163589	broad.mit.edu	37	1	179562680	179562680	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:179562680G>T	ENST00000444136.1	+	3	568	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TDRD5_ENST00000294848.8_Missense_Mutation_p.K106N|TDRD5_ENST00000367614.1_Missense_Mutation_p.K106N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	106					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.K106N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAATGCATAAGGGAAGACCTA	0.453000													21	82					3.62473e-10	5.14385e-10	0.012319	1	0
LPHN3	23284	broad.mit.edu	37	4	62758472	62758472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:62758472G>T	ENST00000512091.1	+	9	2122	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	LPHN3_ENST00000504896.1_Missense_Mutation_p.V459L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V459L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V459L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V459L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V527L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V527L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V459L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V527L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V459L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CACCCCGTCAGTGTCAGGAAG	0.532000													14	89					1.3612e-06	1.7015e-06	0.024245	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161161242	161161242	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:161161242C>A	ENST00000367996.4	-	9	2628	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	734	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.G734C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCATAGGAGCCATCTGGCAGC	0.622000													13	107					1.05317e-09	1.47114e-09	0.020292	1	0
FAT2	2196	broad.mit.edu	37	5	150923860	150923860	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:150923860G>T	ENST00000261800.5	-	9	6840	c.6828C>A	c.(6826-6828)gtC>gtA	p.V2276V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2276	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V2276V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGGTATAGACCAATTGGG	0.517000													28	133					5.61819e-17	9.4818e-17	0.027356	1	0
CBLN2	147381	broad.mit.edu	37	18	70205991	70205991	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:70205991C>A	ENST00000269503.4	-	4	1147	c.374G>T	c.(373-375)gGc>gTc	p.G125V	CBLN2_ENST00000585159.1_Missense_Mutation_p.G125V|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11V|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9V	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	125	C1q.					integral to membrane		p.G125F(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AAAGTGGTTGCCAATATTTAC	0.423000													14	98					7.93312e-07	9.96296e-07	0.020292	1	0
RILP	83547	broad.mit.edu	37	17	1551212	1551212	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:1551212G>A	ENST00000301336.6	-	6	1133	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	287	Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	p.L287L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATGGCCTCGAGCAGAAGGC	0.607000													5	88					0	0	0.003080	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897406	47897406	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:47897406T>A	ENST00000289672.2	-	28	4437	c.4387A>T	c.(4387-4389)Agc>Tgc	p.S1463C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1463	REJ.				cell-cell adhesion	integral to membrane		p.S1463C(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCCAGTGCTAACATGGTTC	0.478000													17	67					0	0	0.010504	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like.							p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562000													6	226					0	0	0.021553	0	0
KLHL5	51088	broad.mit.edu	37	4	39116892	39116892	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:39116892G>T	ENST00000261425.3	+	11	2167	c.2015G>T	c.(2014-2016)gGa>gTa	p.G672V	RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261426.5_Missense_Mutation_p.G657V|KLHL5_ENST00000359687.2_Missense_Mutation_p.G718V|KLHL5_ENST00000381930.3_Missense_Mutation_p.G718V|KLHL5_ENST00000508137.2_Missense_Mutation_p.G531V|KLHL5_ENST00000504108.1_Missense_Mutation_p.G718V	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	718						cytoplasm|cytoskeleton	actin binding	p.G718V(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGTATGATGGACAGGCATAC	0.448000													7	71					5.18039e-06	6.2846e-06	0.003080	1	0
GALR1	2587	broad.mit.edu	37	18	74962576	74962576	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr18:74962576G>A	ENST00000299727.3	+	1	72	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	24					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.G24G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGGAGCCCGGGCCGCTGTTCG	0.721000													3	6					0	0	0.004672	0	0
C2orf49	79074	broad.mit.edu	37	2	105959478	105959478	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:105959478C>G	ENST00000258457.2	+	3	669	c.440C>G	c.(439-441)tCg>tGg	p.S147W	C2orf49_ENST00000410049.1_Intron|C2orf49_ENST00000437250.2_Intron			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	147						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AATTCCTCTTCGAGTGTTTCA	0.393000													4	151					0	0	0.014758	0	0
BRINP3	339479	broad.mit.edu	37	1	190067913	190067913	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:190067913G>T	ENST00000367462.3	-	8	1767	c.1536C>A	c.(1534-1536)gcC>gcA	p.A512A	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.A410A	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		512						extracellular region		p.A512A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGATAAAAATGGCATGGACTT	0.463000													36	186					2.6416e-12	4.13233e-12	0.025465	1	0
SULT1C4	27233	broad.mit.edu	37	2	108998221	108998221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:108998221C>A	ENST00000272452.2	+	2	499	c.173C>A	c.(172-174)aCa>aAa	p.T58K	SULT1C4_ENST00000409309.3_Missense_Mutation_p.T58K	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	58					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.T58K(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACGTAAGGAACAACATGGACT	0.353000													19	94					1.01871e-10	1.46903e-10	0.008871	1	0
TMEM2	23670	broad.mit.edu	37	9	74305045	74305045	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:74305045G>A	ENST00000377044.4	-	22	4353	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	TMEM2_ENST00000396272.3_Missense_Mutation_p.R265C|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1209C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1272						integral to membrane		p.R1272C(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCTTCAATGCGACTGACATCA	0.488000													12	218					0	0	0.013537	0	0
CLVS1	157807	broad.mit.edu	37	8	62212572	62212572	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:62212572C>G	ENST00000519846.1	+	3	658	c.186C>G	c.(184-186)acC>acG	p.T62T	CLVS1_ENST00000325897.4_Silent_p.T62T|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	62					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.T62T(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGATCATCACCAGGCCTGACA	0.473000													10	47					0	0	0.016723	0	0
CHL1	10752	broad.mit.edu	37	3	440019	440019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:440019G>T	ENST00000256509.2	+	25	3846	c.3204G>T	c.(3202-3204)tgG>tgT	p.W1068C	CHL1_ENST00000397491.2_Missense_Mutation_p.W1052C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1052					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.W1068C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTAAGAATTGGGGCGATAATG	0.393000													6	89					3.27435e-08	4.35766e-08	0.020292	1	0
KCNA7	3743	broad.mit.edu	37	19	49573799	49573799	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:49573799G>T	ENST00000221444.1	-	2	1247	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	298						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L298M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		AAGATTTGCAGGCCCTTTGAG	0.597000													22	72					4.35082e-09	5.98377e-09	0.010504	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146818215	146818215	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:146818215G>T	ENST00000361727.3	+	6	1415	c.899G>T	c.(898-900)cGt>cTt	p.R300L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	300	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R300L(1)|p.R300H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCACTTCCGTACCAATGGA	0.483000										HNSCC(39;0.1)			12	61					1.36491e-13	2.1733e-13	0.016723	1	0
PABPC5	140886	broad.mit.edu	37	X	90690839	90690839	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:90690839C>T	ENST00000312600.3	+	2	477	c.263C>T	c.(262-264)cCa>cTa	p.P88L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	88	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.P88L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AATGGAAAACCATTCCGCCTT	0.473000													17	76					0	0	0.028581	0	0
AHNAK	79026	broad.mit.edu	37	11	62284435	62284435	+	Silent	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:62284435C>G	ENST00000378024.4	-	5	17728	c.17454G>C	c.(17452-17454)ggG>ggC	p.G5818G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5818					nervous system development	nucleus	protein binding	p.G5818G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTCAGCTTCCCGTGTTTCC	0.517000													32	179					0	0	0.010818	0	0
FMNL1	752	broad.mit.edu	37	17	43323891	43323891	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:43323891C>T	ENST00000331495.3	+	26	3567	c.3231C>T	c.(3229-3231)ttC>ttT	p.F1077F	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Intron|FMNL1_ENST00000328118.3_Intron	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.F1077F(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGTGCCCTTCACGGCCCGCA	0.582000											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	81					0	0	0.008291	0	0
C1orf168	199920	broad.mit.edu	37	1	57209875	57209875	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:57209875A>G	ENST00000343433.6	-	10	1532	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	484								p.S484S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCGAGATGGAACTTGTCTTAG	0.418000													17	130					0	0	0.007413	0	0
FXR1	8087	broad.mit.edu	37	3	180685989	180685989	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:180685989C>T	ENST00000357559.4	+	14	1733	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	FXR1_ENST00000305586.7_Missense_Mutation_p.S365L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	450	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.S450L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGAAGTGTTTCAGGGGGTCGA	0.512000													13	48					0	0	0.020292	0	0
CDH23	64072	broad.mit.edu	37	10	73574861	73574861	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:73574861C>T	ENST00000224721.6	+	69	9911	c.9906C>T	c.(9904-9906)ctC>ctT	p.L3302L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L1057L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3297					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.L3302L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCACCGACCTCAACAGCCTGC	0.682000													3	15					0	0	0.004672	0	0
CLN3	1201	broad.mit.edu	37	16	28488846	28488846	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:28488846C>T	ENST00000569430.1	-	17	2127	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	CLN3_ENST00000395653.4_Silent_p.Q336Q|CLN3_ENST00000535392.1_Silent_p.Q358Q|CLN3_ENST00000568224.1_Silent_p.Q358Q|CLN3_ENST00000567963.1_Silent_p.Q339Q|CLN3_ENST00000355477.5_Silent_p.Q388Q|CLN3_ENST00000357806.7_Silent_p.Q337Q|CLN3_ENST00000359984.7_Silent_p.Q436Q|CLN3_ENST00000333496.9_Silent_p.Q412Q|CLN3_ENST00000360019.2_Silent_p.Q436Q|CLN3_ENST00000354630.5_Silent_p.Q419Q|CLN3_ENST00000357857.9_Silent_p.Q382Q|CLN3_ENST00000565316.1_Silent_p.Q419Q			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	436					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.Q436Q(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ATCAGGAGAGCTGGCAGAGGA	0.612000													16	73					0	0	0.028581	0	0
TAF1L	138474	broad.mit.edu	37	9	32631299	32631299	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:32631299G>T	ENST00000242310.4	-	1	4368	c.4279C>A	c.(4279-4281)Cca>Aca	p.P1427T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1427	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.P1427T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCATTGACTGGAGTGTGGAAA	0.478000													89	285					4.78148e-37	8.97577e-37	0.014410	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209948	140209948	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140209948G>T	ENST00000529310.1	+	1	2386	c.2272G>T	c.(2272-2274)Gtg>Ttg	p.V758L	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.V758L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCAGAGGGTGTGCTCCGG	0.637000													12	43					2.80697e-09	3.8905e-09	0.010729	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					10	106					0	0	0.028581	0	0
OR10H4	126541	broad.mit.edu	37	19	16060156	16060156	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:16060156C>A	ENST00000322107.1	+	1	339	c.339C>A	c.(337-339)tcC>tcA	p.S113S		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S113S(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCACTCACTCCTTCCTTCTCC	0.532000													82	360					1.11057e-38	2.09949e-38	0.014410	1	0
FRAS1	80144	broad.mit.edu	37	4	79207579	79207579	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:79207579A>T	ENST00000264895.6	+	14	1860	c.1420A>T	c.(1420-1422)Acg>Tcg	p.T474S	FRAS1_ENST00000264899.6_Missense_Mutation_p.T474S|FRAS1_ENST00000325942.6_Missense_Mutation_p.T474S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	474					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T474S(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAGTGCTCCACGTGTACCAG	0.567000													21	150					0	0	0.021523	0	0
GIPC3	126326	broad.mit.edu	37	19	3589536	3589536	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:3589536G>T	ENST00000322315.5	+	4	733	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	230								p.A230S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGGGGCTGCCACagtgga	0.597000													24	34					1.39806e-14	2.27343e-14	0.008361	1	0
TG	7038	broad.mit.edu	37	8	133906105	133906105	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:133906105C>T	ENST00000220616.4	+	11	2972	c.2932C>T	c.(2932-2934)Ccc>Tcc	p.P978S	TG_ENST00000377869.1_Missense_Mutation_p.P978S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	978	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.P978S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTCTTCCCGCCCCGGGAGGC	0.602000													8	184					0	0	0.004482	0	0
GRIN1	2902	broad.mit.edu	37	9	140058266	140058266	+	Silent	SNP	C	C	A	rs146086141	by1000genomes	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:140058266C>A	ENST00000371561.3	+	18	3596	c.2499C>A	c.(2497-2499)atC>atA	p.I833I	GRIN1_ENST00000371546.4_Silent_p.I854I|GRIN1_ENST00000371560.3_Silent_p.I854I|GRIN1_ENST00000371553.3_Silent_p.I854I|GRIN1_ENST00000371555.4_Silent_p.I854I|GRIN1_ENST00000315048.3_Silent_p.I833I|GRIN1_ENST00000371550.4_Silent_p.I833I|GRIN1_ENST00000371559.4_Silent_p.I833I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.I833I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	833					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	p.I833I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGATTTTCATCGAGATTGCCT	0.622000													24	86					1.33986e-20	2.34257e-20	0.024334	1	0
RYR2	6262	broad.mit.edu	37	1	237794762	237794762	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:237794762C>G	ENST00000366574.2	+	42	6793	c.6476C>G	c.(6475-6477)cCt>cGt	p.P2159R	RYR2_ENST00000360064.6_Missense_Mutation_p.P2157R|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2159	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	p.P2157S(1)		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)			TACCAGCACCCTAATCTCATG	0.458000													12	42					0	0	0.016723	0	0
BMP10	27302	broad.mit.edu	37	2	69093486	69093486	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:69093486C>A	ENST00000295379.1	-	2	710	c.552G>T	c.(550-552)ctG>ctT	p.L184L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	184					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.L184L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ACACCAAGACCAGCATGTTTC	0.463000													14	99					4.3838e-07	5.57086e-07	0.016723	1	0
UNC13A	23025	broad.mit.edu	37	19	17759401	17759401	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:17759401G>T	ENST00000428389.2	-	17	1918	c.1919C>A	c.(1918-1920)aCg>aAg	p.T640K	UNC13A_ENST00000552293.1_Missense_Mutation_p.T552K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T552K|UNC13A_ENST00000519716.2_Missense_Mutation_p.T552K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T552K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T550K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	552					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T552K(1)|p.T640K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGTGTGGCGTCGTGCACGA	0.617000													36	102					1.6237e-14	2.60864e-14	0.013114	1	0
ABCB7	22	broad.mit.edu	37	X	74273349	74273349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:74273349C>G	ENST00000253577.3	-	16	2142	c.2118G>C	c.(2116-2118)tgG>tgC	p.W706C	ABCB7_ENST00000339447.4_Missense_Mutation_p.W665C|ABCB7_ENST00000373394.3_Missense_Mutation_p.W705C	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	705	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.W706C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCTGTGTATGCCACATTTCTG	0.423000													6	40					0	0	0.021553	0	0
LONP1	9361	broad.mit.edu	37	19	5705941	5705941	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:5705941G>A	ENST00000360614.3	-	8	1366	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	LONP1_ENST00000593119.1_Silent_p.I339I|LONP1_ENST00000590729.1_Silent_p.I273I|LONP1_ENST00000540670.2_Silent_p.I207I|LONP1_ENST00000585374.1_Silent_p.I289I	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	403					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.I403I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCCTTCTTGATGATCTTTA	0.597000													42	153					0	0	0.014410	0	0
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.T21T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTATAAAGACGGAATGGAATT	0.493000													6	115					0	0	0.003080	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395169	109395169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:109395169C>A	ENST00000370001.3	-	2	386	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.G40C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.G40C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	40								p.G40C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACTTCAAGGCCATCCTTTTTT	0.403000													26	149					7.38237e-10	1.03392e-09	0.006320	1	0
SLA2	84174	broad.mit.edu	37	20	35262953	35262953	+	Missense_Mutation	SNP	G	G	A	rs145656453	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:35262953G>A	ENST00000262866.4	-	3	553	c.131C>T	c.(130-132)cCg>cTg	p.P44L	SLA2_ENST00000360672.2_Missense_Mutation_p.P44L	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	44	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	p.P44L(1)		endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCACCTGCCGGGAAACTGCC	0.567000													4	54					0	0	0.021553	0	0
DOCK10	55619	broad.mit.edu	37	2	225688308	225688308	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:225688308G>T	ENST00000409592.3	-	28	3188	c.3075C>A	c.(3073-3075)gtC>gtA	p.V1025V	DOCK10_ENST00000258390.7_Silent_p.V1031V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1031							GTP binding	p.V1029V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATAGGACCATGACAAGATTGT	0.413000													17	91					1.67942e-08	2.26319e-08	0.006122	1	0
C2CD5	9847	broad.mit.edu	37	12	22676358	22676358	+	Splice_Site	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:22676358A>C	ENST00000333957.4	-	7	1056		c.e7+1		C2CD5_ENST00000545552.1_Splice_Site|C2CD5_ENST00000446597.1_Splice_Site|C2CD5_ENST00000544930.1_Splice_Site|C2CD5_ENST00000536386.1_Splice_Site|C2CD5_ENST00000542676.1_Splice_Site|C2CD5_ENST00000396028.2_Splice_Site|C2CD5_ENST00000540703.1_Splice_Site	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.?(2)									ATTCATACTTACTCCTTCATT	0.363000													8	70					0	0	0.004482	0	0
CHD8	57680	broad.mit.edu	37	14	21870599	21870599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:21870599G>A	ENST00000399982.2	-	18	3842	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD8_ENST00000430710.3_Missense_Mutation_p.R981C|CHD8_ENST00000557364.1_Missense_Mutation_p.R1260C|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1260	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R1260C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TAGGAATTACGAGTGATGAGG	0.473000													4	75					0	0	0.009096	0	0
IGFBP3	3486	broad.mit.edu	37	7	45957004	45957004	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:45957004G>T	ENST00000275521.6	-	2	571	c.438C>A	c.(436-438)gcC>gcA	p.A146A	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Silent_p.A152A|IGFBP3_ENST00000381086.5_Silent_p.A49A	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	146	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.A146A(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CCACACTGCCGGCGCTGCGGT	0.498000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	109					2.94398e-08	3.93758e-08	0.007413	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102549392	102549392	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:102549392T>C	ENST00000334701.7	-	10	2381	c.2100A>G	c.(2098-2100)atA>atG	p.I700M	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.I399M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.I578M	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	578	Required for homodimerization.				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	p.I700M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTTTCTCCAATatgtctttca	0.373000													20	63					0	0	0.010504	0	0
ZNF445	353274	broad.mit.edu	37	3	44489616	44489616	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:44489616C>G	ENST00000425708.2	-	7	1888	c.1547G>C	c.(1546-1548)aGg>aCg	p.R516T	ZNF445_ENST00000396077.2_Missense_Mutation_p.R516T			P59923	ZN445_HUMAN	zinc finger protein 445	516					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R516T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCCACACACCCTACATTTAAA	0.448000													7	140					0	0	0.008291	0	0
RFT1	91869	broad.mit.edu	37	3	53160012	53160012	+	Splice_Site	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:53160012T>A	ENST00000296292.3	-	2	125		c.e2-2		RFT1_ENST00000394738.3_Splice_Site	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)						carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.?(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AAACAACACCTATAGAAAAAG	0.368000													4	23					0	0	0.009096	0	0
CDH9	1007	broad.mit.edu	37	5	26881265	26881265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:26881265C>A	ENST00000231021.4	-	12	2522	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	784					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D784Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCACTATCATCACCCCCATAC	0.418000													36	204					6.2361e-21	1.09747e-20	0.007835	1	0
TRIM9	114088	broad.mit.edu	37	14	51489622	51489622	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:51489622G>T	ENST00000298355.3	-	3	2093	c.972C>A	c.(970-972)atC>atA	p.I324I	TRIM9_ENST00000360392.4_Silent_p.I324I|TRIM9_ENST00000338969.5_Silent_p.I324I	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	324					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.I324I(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGAGGGCATCGATGAGGGCAT	0.537000													8	120					0.00829132	0.00874922	0.008291	1	0
YLPM1	56252	broad.mit.edu	37	14	75265213	75265213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:75265213G>T	ENST00000325680.7	+	5	3337	c.3213G>T	c.(3211-3213)aaG>aaT	p.K1071N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.K876N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	876	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.K1071N(1)|p.K876N(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTCGAGAGAAGATGAACAGAG	0.557000													18	97					5.3912e-06	6.52555e-06	0.006122	1	0
BTBD3	22903	broad.mit.edu	37	20	11903469	11903469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:11903469C>T	ENST00000405977.1	+	5	1349	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	BTBD3_ENST00000378226.2_Nonsense_Mutation_p.Q242*|BTBD3_ENST00000399006.2_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000254977.3_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000488503.1_3'UTR			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	242								p.Q242*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGACCTGACCCAGCGTTGCTG	0.537000													21	92					0	0	0.012319	0	0
FAM13B	51306	broad.mit.edu	37	5	137346774	137346774	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:137346774G>A	ENST00000033079.3	-	6	1064	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	FAM13B_ENST00000425075.2_Silent_p.L87L|FAM13B_ENST00000420893.2_Silent_p.L205L	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	205	Glu-rich.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L87L(1)|p.L205L(1)		endometrium(4)|kidney(2)|lung(5)	11						TAGTTTTCCAGAAGTCCAGCC	0.348000													15	122					0	0	0.020292	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660630	125660630	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:125660630T>C	ENST00000431078.1	+	22	3969	c.3605T>C	c.(3604-3606)aTg>aCg	p.M1202T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1202					cell adhesion|signal transduction	integral to membrane	receptor binding	p.M1202T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGGCTTCATGGTGGACTCA	0.532000													3	17					0	0	0.009096	0	0
BAI3	577	broad.mit.edu	37	6	70034795	70034795	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:70034795A>T	ENST00000370598.1	+	21	3667	c.2846A>T	c.(2845-2847)cAc>cTc	p.H949L	BAI3_ENST00000238918.8_Missense_Mutation_p.H155L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	949					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H949R(1)|p.H949L(1)		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)				GCATTTTTGCACTTTTTCTTC	0.423000													19	85					0	0	0.010504	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220370	10220370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:10220370G>T	ENST00000428358.1	+	6	749	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PPAN_ENST00000393793.1_Missense_Mutation_p.D140Y|PPAN_ENST00000253107.7_Missense_Mutation_p.D193Y|PPAN_ENST00000556468.1_Missense_Mutation_p.D193Y|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.D193Y	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		193	Brix.				RNA splicing	nucleolus	protein binding	p.D193Y(2)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAGGAGCTGGACTTCCGCCA	0.607000													73	151					1.43872e-54	2.75884e-54	0.014410	1	0
ATL1	51062	broad.mit.edu	37	14	51058280	51058280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:51058280G>A	ENST00000441560.2	+	5	926	c.445G>A	c.(445-447)Gga>Aga	p.G149R	ATL1_ENST00000358385.6_Missense_Mutation_p.G149R|ATL1_ENST00000357032.3_Missense_Mutation_p.G149R|ATL1_ENST00000354525.4_Missense_Mutation_p.G149R	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	149					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	p.G149R(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GGATACTCAGGGAACCTTTGA	0.358000													5	132					0	0	0.021553	0	0
CDRT1	374286	broad.mit.edu	37	17	15499942	15499942	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:15499942C>T	ENST00000455584.2	-	15	2563	c.2520G>A	c.(2518-2520)acG>acA	p.T840T	CDRT1_ENST00000354433.3_Silent_p.T30T|CDRT1_ENST00000583965.1_Silent_p.T30T|CDRT1_ENST00000395906.3_Silent_p.T530T														p.T30T(2)|p.T530T(2)									TGTGTCTAAACGTCTTCAGGC	0.507000													5	47					0	0	0.021553	0	0
DRD2	1813	broad.mit.edu	37	11	113285168	113285168	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:113285168G>T	ENST00000362072.3	-	6	1083	c.739C>A	c.(739-741)Ccc>Acc	p.P247T	DRD2_ENST00000544518.1_Missense_Mutation_p.P246T|DRD2_ENST00000542968.1_Missense_Mutation_p.P247T|DRD2_ENST00000355319.2_Missense_Mutation_p.P247T|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Missense_Mutation_p.P247T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	247	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.P247N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATGTCCTCGGGGTGAGTACAG	0.562000													42	208					9.14704e-12	1.38239e-11	0.008740	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553151	140553151	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140553151G>A	ENST00000231137.3	+	1	909	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		245					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S245S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGCGGTCGCTCTACAAGG	0.542000													20	112					0	0	0.007413	0	0
SYNE2	23224	broad.mit.edu	37	14	64557634	64557634	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:64557634G>T	ENST00000357395.3	+	61	12143	c.999G>T	c.(997-999)gtG>gtT	p.V333V	SYNE2_ENST00000555002.1_Silent_p.V582V|SYNE2_ENST00000554584.1_Silent_p.V3981V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.V333V|SYNE2_ENST00000358025.3_Silent_p.V3948V|SYNE2_ENST00000344113.4_Silent_p.V3948V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3948					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.V3948V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGAGATAGTGTCTTACCAAG	0.383000													19	92					7.45023e-12	1.13882e-11	0.010504	1	0
GPR64	10149	broad.mit.edu	37	X	19046303	19046303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:19046303G>T	ENST00000354791.3	-	9	605	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	GPR64_ENST00000379876.1_Missense_Mutation_p.Q114K|GPR64_ENST00000357544.3_Missense_Mutation_p.Q108K|GPR64_ENST00000360279.4_Missense_Mutation_p.Q116K|GPR64_ENST00000340581.3_Missense_Mutation_p.Q108K|GPR64_ENST00000357991.3_Missense_Mutation_p.Q135K|GPR64_ENST00000379878.3_Missense_Mutation_p.Q122K|GPR64_ENST00000379869.3_Missense_Mutation_p.Q138K|GPR64_ENST00000379873.2_Missense_Mutation_p.Q138K|GPR64_ENST00000356606.4_Missense_Mutation_p.Q124K			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	138					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.Q135K(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AAACTTACCTGGGGAACAGTG	0.254000													15	70					0.000422831	0.000473253	0.028581	1	0
APOB	338	broad.mit.edu	37	2	21255418	21255418	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:21255418T>G	ENST00000233242.1	-	10	1287	c.1160A>C	c.(1159-1161)cAg>cCg	p.Q387P	APOB_ENST00000399256.4_Missense_Mutation_p.Q387P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	387	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.Q387T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCACTGAGGCTGTCCACACTG	0.507000													12	51					0	0	0.013537	0	0
GULP1	51454	broad.mit.edu	37	2	189406035	189406035	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:189406035G>T	ENST00000409580.1	+	8	1103	c.389G>T	c.(388-390)aGc>aTc	p.S130I	GULP1_ENST00000409830.1_Missense_Mutation_p.S130I|GULP1_ENST00000359135.3_Missense_Mutation_p.S130I|GULP1_ENST00000409843.1_Missense_Mutation_p.S130I|GULP1_ENST00000409637.3_Missense_Mutation_p.S130I|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000410051.1_Missense_Mutation_p.S130I|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409609.1_Missense_Mutation_p.S130I			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	130	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	p.S130I(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GTATTTGACAGCGAAAAGTGT	0.348000													17	134					2.35188e-11	3.48548e-11	0.006122	1	0
TFDP2	7029	broad.mit.edu	37	3	141671484	141671484	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:141671484G>A	ENST00000499676.2	-	13	1703	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	TFDP2_ENST00000317104.7_Silent_p.F328F|TFDP2_ENST00000495310.1_Silent_p.F307F|TFDP2_ENST00000310282.6_Silent_p.F344F|TFDP2_ENST00000489671.1_Silent_p.F404F|TFDP2_ENST00000486111.1_Silent_p.F344F|TFDP2_ENST00000479040.1_Silent_p.F343F|TFDP2_ENST00000477292.1_Silent_p.F268F|TFDP2_ENST00000467072.1_Silent_p.F344F|TFDP2_ENST00000397991.4_Silent_p.F376F	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	404					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	p.G402fs*22(1)|p.F404F(1)		kidney(1)|upper_aerodigestive_tract(2)	3						TTGGGGCCAGGAACTGCCCAG	0.502000													12	84					0	0	0.010729	0	0
MUSK	4593	broad.mit.edu	37	9	113510054	113510054	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:113510054A>T	ENST00000416899.2	+	7	1013	c.887A>T	c.(886-888)aAg>aTg	p.K296M	MUSK_ENST00000374448.4_Missense_Mutation_p.K296M|MUSK_ENST00000189978.5_Missense_Mutation_p.K296M			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	296	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K296M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTACTGCCAAGGCTGCAGCC	0.488000													18	46					0	0	0.012319	0	0
USH2A	7399	broad.mit.edu	37	1	216011423	216011423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:216011423G>T	ENST00000366943.2	-	47	9667	c.9281C>A	c.(9280-9282)gCc>gAc	p.A3094D	USH2A_ENST00000307340.3_Missense_Mutation_p.A3094D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3094	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A3094D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTCACGCAGGCATATATTGT	0.378000										HNSCC(13;0.011)			22	179					1.55795e-14	2.51055e-14	0.012319	1	0
TMTC1	83857	broad.mit.edu	37	12	29669316	29669316	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:29669316G>A	ENST00000256062.5	-	15	2422	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.S820L|TMTC1_ENST00000539277.1_Missense_Mutation_p.S758L|TMTC1_ENST00000552618.1_Missense_Mutation_p.S782L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	758						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATAGATGGCTGACAAGAGGCG	0.453000													5	142					0	0	0.014758	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43624985	43624985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr9:43624985C>A	ENST00000332857.6	-	4	3730	c.3702G>T	c.(3700-3702)aaG>aaT	p.K1234N		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.K1234N(1)									GGGCTTGAAACTTCTGTTTGT	0.502000													38	304					9.73076e-26	1.76473e-25	0.027894	1	0
ARID5A	10865	broad.mit.edu	37	2	97217674	97217674	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:97217674A>T	ENST00000454558.2	+	7	2382	c.1205A>T	c.(1204-1206)gAt>gTt	p.D402V	ARID5A_ENST00000357485.3_Missense_Mutation_p.D470V			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.D470V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AAGGAGGCGGATGCCAAGAAG	0.672000													9	30					0	0	0.008291	0	0
KCTD3	51133	broad.mit.edu	37	1	215792539	215792539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:215792539C>T	ENST00000259154.4	+	17	2086	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	598						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.Q598*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTACTCGATCAATGTGATTT	0.408000													6	151					0	0	0.001984	0	0
PIWIL3	440822	broad.mit.edu	37	22	25121445	25121445	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:25121445C>G	ENST00000332271.5	-	17	2490	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E574Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E574Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	692	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.E692Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCACAAGCTCTTCTCCTGTT	0.438000													17	116					0	0	0.004990	0	0
ILDR2	387597	broad.mit.edu	37	1	166892002	166892002	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:166892002T>A	ENST00000271417.3	-	8	1094	c.1039A>T	c.(1039-1041)Agc>Tgc	p.S347C	ILDR2_ENST00000528703.1_Missense_Mutation_p.S288C|ILDR2_ENST00000529071.1_Missense_Mutation_p.S328C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S347C|ILDR2_ENST00000525740.1_Missense_Mutation_p.S220C|ILDR2_ENST00000526687.1_Missense_Mutation_p.S239C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	347						integral to membrane		p.S347C(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGGAAATTGCTGTCCTCCTCA	0.478000													27	239					0	0	0.008361	0	0
DNAH9	1770	broad.mit.edu	37	17	11554419	11554419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:11554419G>T	ENST00000262442.3	+	13	2199	c.2131G>T	c.(2131-2133)Gaa>Taa	p.E711*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E711*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	711	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E711*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGCTATCTTGAACCCAGAGA	0.438000													45	163					8.00217e-19	1.37658e-18	0.014410	1	0
GPRASP1	9737	broad.mit.edu	37	X	101910161	101910161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:101910161G>T	ENST00000537097.1	+	6	2133	c.1320G>T	c.(1318-1320)tgG>tgT	p.W440C	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440C|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	440						cytoplasm	protein binding	p.W440F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTGGTTCTGGACTGAAGAAG	0.517000													20	202					1.15919e-05	1.3843e-05	0.008871	1	0
SLC27A6	28965	broad.mit.edu	37	5	128321030	128321030	+	Splice_Site	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:128321030G>A	ENST00000262462.4	+	2	1695		c.e2+1		SLC27A6_ENST00000395266.1_Splice_Site|SLC27A6_ENST00000506176.1_Splice_Site			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6						long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.?(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GGAACAACAGGTATGATCCAA	0.438000													10	39					0	0	0.008291	0	0
EPHA3	2042	broad.mit.edu	37	3	89445045	89445045	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:89445045G>C	ENST00000336596.2	+	6	1590	c.1365G>C	c.(1363-1365)ttG>ttC	p.L455F	EPHA3_ENST00000452448.2_Missense_Mutation_p.L455F|EPHA3_ENST00000494014.1_Missense_Mutation_p.L455F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	455	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding	p.L455F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCATCTCTTTGTCCTGGCAAG	0.453000										TSP Lung(6;0.00050)			48	242					0	0	0.014410	0	0
OR2T34	127068	broad.mit.edu	37	1	248737364	248737364	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:248737364C>A	ENST00000328782.2	-	1	716	c.695G>T	c.(694-696)aGg>aTg	p.R232M		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R232M(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGAATTCATCCTGTGGATGAG	0.547000													28	145					2.4375e-19	4.20665e-19	0.007291	1	0
IGFN1	91156	broad.mit.edu	37	1	201195156	201195156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:201195156G>T	ENST00000335211.4	+	22	10821	c.10691G>T	c.(10690-10692)gGc>gTc	p.G3564V	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.G3564V(1)|p.G724V(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCCTCCCCGGCCACGAATAC	0.667000													11	48					6.72482e-11	9.77658e-11	0.024245	1	0
HOXA3	3200	broad.mit.edu	37	7	27149789	27149789	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:27149789G>T	ENST00000396352.4	-	2	670	c.471C>A	c.(469-471)ccC>ccA	p.P157P	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P157P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	157					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P157P(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTTTCATCCAGGGGAAGATTT	0.572000													23	188					5.60225e-13	8.84131e-13	0.009535	1	0
ERMN	57471	broad.mit.edu	37	2	158181913	158181913	+	Splice_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:158181913C>A	ENST00000410096.1	-	1	533		c.e1+1		ERMN_ENST00000409925.1_Splice_Site|ERMN_ENST00000397283.2_Splice_Site|ERMN_ENST00000420719.2_Splice_Site|ERMN_ENST00000409216.1_Splice_Site	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein							cytoplasm|cytoskeleton		p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAACACTTTACCTTTTAGCAT	0.378000													13	96					6.81908e-15	1.11566e-14	0.020292	1	0
NEB	4703	broad.mit.edu	37	2	152387542	152387542	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:152387542A>T	ENST00000427231.2	-	145	21798	c.21596T>A	c.(21595-21597)cTg>cAg	p.L7199Q	NEB_ENST00000409198.1_Missense_Mutation_p.L5498Q|NEB_ENST00000172853.10_Missense_Mutation_p.L5498Q|NEB_ENST00000603639.1_Missense_Mutation_p.L7199Q|NEB_ENST00000604864.1_Missense_Mutation_p.L7199Q|NEB_ENST00000397345.3_Missense_Mutation_p.L7199Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5498					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.L7199Q(1)|p.L5498Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCGGACATGCAGCAACATGGG	0.423000													8	50					0	0	0.004482	0	0
GPR116	221395	broad.mit.edu	37	6	46826344	46826344	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr6:46826344C>A	ENST00000283296.7	-	17	3584	c.3296G>T	c.(3295-3297)aGc>aTc	p.S1099I	GPR116_ENST00000265417.7_Missense_Mutation_p.S1099I|GPR116_ENST00000362015.4_Missense_Mutation_p.S1099I|GPR116_ENST00000545669.1_Missense_Mutation_p.S528I|GPR116_ENST00000456426.2_Missense_Mutation_p.S957I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1099					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1099I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GAAGAAGACGCTGAGGTAGAA	0.512000													5	45					0.00116845	0.00127315	0.021553	1	0
COL4A5	1287	broad.mit.edu	37	X	107842032	107842032	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:107842032C>T	ENST00000328300.6	+	25	2124	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P627L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	627	Triple-helical region.			FGPP -> LALQ (in Ref. 5; AAA99480).	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P627L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTTTCGGCCCTCCAGGCCCA	0.517000									Alport syndrome with Diffuse Leiomyomatosis				12	120					0	0	0.020292	0	0
NF1	4763	broad.mit.edu	37	17	29653005	29653005	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr17:29653005G>T	ENST00000358273.4	+	37	5386	c.5003G>T	c.(5002-5004)gGc>gTc	p.G1668V	NF1_ENST00000356175.3_Missense_Mutation_p.G1647V|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1668	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.G1668V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTCCTGGCTTTGCTTAC	0.453000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			48	146					6.27289e-28	1.14539e-27	0.014410	1	0
FAM196A	642938	broad.mit.edu	37	10	128973656	128973656	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:128973656G>C	ENST00000522781.1	-	4	1559	c.1004C>G	c.(1003-1005)cCt>cGt	p.P335R	FAM196A_ENST00000424811.2_Missense_Mutation_p.P335R|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	335								p.P335R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGGGACTAGGCTGGTTCCC	0.597000													44	200					0	0	0.014410	0	0
IL21R	50615	broad.mit.edu	37	16	27445722	27445722	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:27445722G>T	ENST00000337929.3	+	3	577	c.104G>T	c.(103-105)tGc>tTc	p.C35F	IL21R_ENST00000395755.1_Missense_Mutation_p.C35F|IL21R_ENST00000395754.4_Missense_Mutation_p.C35F|IL21R_ENST00000564089.1_Missense_Mutation_p.C35F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	35					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.C35F(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACGGTCATCTGCATCCTGGAA	0.637000			T	BCL6	NHL								11	53					0.010729	0.0112329	0.010729	1	0
NETO2	81831	broad.mit.edu	37	16	47162416	47162416	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:47162416G>A	ENST00000562435.1	-	4	685	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	NETO2_ENST00000303155.5_Missense_Mutation_p.R101W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	101	CUB 1.					integral to membrane	receptor activity	p.R101W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TGATCAAACCGACACTCAAAT	0.398000										HNSCC(25;0.065)			18	214					0	0	0.004990	0	0
JAK3	3718	broad.mit.edu	37	19	17943472	17943472	+	Missense_Mutation	SNP	C	C	T	rs1052526		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:17943472C>T	ENST00000458235.1	-	19	2635	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	JAK3_ENST00000527670.1_Missense_Mutation_p.D846N|JAK3_ENST00000534444.1_Missense_Mutation_p.D846N	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	846	Protein kinase 2.			GD -> AH (in Ref. 1; AAA19626).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D846N(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCTGTATTGTCGCCTAGCGGG	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								10	187					0	0	0.010729	0	0
C10orf12	26148	broad.mit.edu	37	10	98741739	98741739	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:98741739G>C	ENST00000286067.2	+	1	699	c.592G>C	c.(592-594)Ggt>Cgt	p.G198R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	198								p.G198R(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTTTTCAATGGTGACTGTTG	0.418000													24	102					0	0	0.016522	0	0
MS4A5	64232	broad.mit.edu	37	11	60197159	60197159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:60197159C>A	ENST00000300190.2	+	1	98	c.12C>A	c.(10-12)agC>agA	p.S4R	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	4						integral to membrane	receptor activity	p.S4R(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TGGATTCAAGCACCGCACACA	0.453000													30	178					4.02929e-09	5.5702e-09	0.010818	1	0
RYR1	6261	broad.mit.edu	37	19	39075606	39075606	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:39075606G>T	ENST00000355481.4	+	101	14786	c.14655G>T	c.(14653-14655)gtG>gtT	p.V4885V	RYR1_ENST00000360985.3_Silent_p.V4885V|RYR1_ENST00000359596.3_Silent_p.V4890V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4890					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V4890V(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGTACGTGGGTGTCCGGG	0.577000													35	77					1.66425e-11	2.48708e-11	0.021022	1	0
IL23R	149233	broad.mit.edu	37	1	67685289	67685289	+	Silent	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:67685289G>T	ENST00000347310.5	+	7	1002	c.831G>T	c.(829-831)gtG>gtT	p.V277V	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_Silent_p.V277V|C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000395227.1_Silent_p.V22V	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	277	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.V277V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTACATATGTGCAACAGTCAG	0.343000													26	72					5.45024e-15	8.94441e-15	0.018920	1	0
NPAP1	23742	broad.mit.edu	37	15	24921196	24921196	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:24921196C>A	ENST00000329468.2	+	1	656	c.182C>A	c.(181-183)gCa>gAa	p.A61E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.A61E(1)									AGGCCTTCAGCAGCCAGCATC	0.736000													5	26					0.00448238	0.00479615	0.004482	1	0
TTC17	55761	broad.mit.edu	37	11	43413371	43413371	+	Splice_Site	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:43413371G>T	ENST00000039989.4	+	5	546	c.531_splice	c.e5-1	p.G178_splice	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Splice_Site_p.G178_splice	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	178							binding	p.G178C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCTCTTCAGGGTGTACAGGA	0.318000													5	73					0.00116845	0.00127315	0.021553	1	0
GLI3	2737	broad.mit.edu	37	7	42088288	42088288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:42088288C>A	ENST00000395925.3	-	5	565	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	161					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A161S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTAGATAAGGCGGAAGTCCTG	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	42					2.17888e-05	2.56762e-05	0.006214	1	0
TRPM2	7226	broad.mit.edu	37	21	45825813	45825813	+	Missense_Mutation	SNP	G	G	T	rs147919263		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr21:45825813G>T	ENST00000397928.1	+	18	3128	c.2683G>T	c.(2683-2685)Ggg>Tgg	p.G895W	TRPM2_ENST00000300481.9_Missense_Mutation_p.G875W|TRPM2_ENST00000397932.2_Missense_Mutation_p.G895W|TRPM2_ENST00000300482.5_Missense_Mutation_p.G895W|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	895						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.G895W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGTACCCCGGGCGCGTCAT	0.617000													42	180					6.68952e-21	1.17341e-20	0.013114	1	0
SLC32A1	140679	broad.mit.edu	37	20	37353584	37353584	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:37353584G>A	ENST00000217420.1	+	1	480	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	73					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.E73K(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)	CTGCGGGGACGAGGGCGCTGA	0.677000													12	88					0	0	0.024245	0	0
MS4A1	931	broad.mit.edu	37	11	60229879	60229879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:60229879C>A	ENST00000534668.1	+	2	321	c.32C>A	c.(31-33)aCt>aAt	p.T11N	MS4A1_ENST00000345732.4_Missense_Mutation_p.T11N|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.T11N|MS4A1_ENST00000528313.1_Missense_Mutation_p.T11N|MS4A1_ENST00000532073.1_Missense_Mutation_p.T11N	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	11					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GTAAATGGGACTTTCCCGGCA	0.433000													11	100					3.07112e-06	3.75125e-06	0.010729	1	0
NAT10	55226	broad.mit.edu	37	11	34160792	34160792	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:34160792G>T	ENST00000257829.3	+	22	2472	c.2266G>T	c.(2266-2268)Gat>Tat	p.D756Y	NAT10_ENST00000531159.2_Missense_Mutation_p.D684Y|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	756	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.D756Y(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CACTGATGAGGATGAGGCTGA	0.557000													21	121					4.26978e-12	6.58309e-12	0.018920	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120308016	120308016	+	Splice_Site	SNP	G	G	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:120308016G>C	ENST00000397843.2	+	12	1090		c.e12-1		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTTTCATTAGAGTCCCAAGA	0.348000			T	MLL	AML								3	65					0	0	0.009096	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766609	171766609	+	Silent	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:171766609T>A	ENST00000311601.5	-	13	1670	c.1500A>T	c.(1498-1500)tcA>tcT	p.S500S	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	500					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.S500S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGACATGTCTGAAGATGCCT	0.592000													33	156					0	0	0.019004	0	0
ADH1B	125	broad.mit.edu	37	4	100239987	100239987	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr4:100239987C>A	ENST00000394887.3	-	0	142				ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000305046.8_Missense_Mutation_p.E25D	NM_000668.4	NP_000659.2	P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.E25D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTCCACATCCTCAATGGAAA	0.368000													21	108					1.50039e-11	2.24848e-11	0.012319	1	0
CCDC146	57639	broad.mit.edu	37	7	76891577	76891577	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:76891577G>A	ENST00000285871.4	+	9	1253	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.D122N	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	376								p.D376N(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGTGTCCTGGGATGCACTTAG	0.408000													27	141					0	0	0.006320	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509707	106509707	+	Silent	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:106509707C>T	ENST00000359195.3	+	2	2011	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	PIK3CG_ENST00000440650.2_Silent_p.L567L|PIK3CG_ENST00000496166.1_Silent_p.L567L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	567					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.L567L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTAACCCTCTCACAGCAGAGG	0.502000													24	90					0	0	0.016522	0	0
ZBED4	9889	broad.mit.edu	37	22	50277987	50277987	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr22:50277987C>G	ENST00000216268.4	+	2	1154	c.677C>G	c.(676-678)tCt>tGt	p.S226C		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	226						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.S226C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGAGGAGTCTGTGTCTGTA	0.557000													15	103					0	0	0.028581	0	0
TGM4	7047	broad.mit.edu	37	3	44943081	44943081	+	Silent	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:44943081A>C	ENST00000296125.4	+	7	791	c.723A>C	c.(721-723)acA>acC	p.T241T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	241					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T241T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AAGGTGGCACAGCCCCATACA	0.592000													4	30					0	0	0.014758	0	0
FRMPD3	84443	broad.mit.edu	37	X	106765704	106765704	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:106765704G>T	ENST00000276185.4	+	1	25	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	9						cytoskeleton		p.V9F(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TAGCCAGAGGGTCCAGGACCG	0.577000													8	52					7.48243e-07	9.44127e-07	0.006214	1	0
MAP3K15	389840	broad.mit.edu	37	X	19398322	19398322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:19398322C>A	ENST00000338883.4	-	19	2504	c.2505G>T	c.(2503-2505)tgG>tgT	p.W835C	MAP3K15_ENST00000469203.2_Missense_Mutation_p.W667C|MAP3K15_ENST00000359173.3_Missense_Mutation_p.W270C|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	835	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.W310C(1)|p.W882C(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCCCAGGGACCAGATATCGG	0.542000													6	21					2.17888e-05	2.56762e-05	0.006214	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327846	88327846	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr13:88327846G>T	ENST00000325089.6	+	2	422	c.203G>T	c.(202-204)cGg>cTg	p.R68L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	68						integral to membrane		p.R68L(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTGAAAACCGGGGGATCATC	0.458000													69	261					1.72039e-30	3.1848e-30	0.014410	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146362	5146362	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:5146362C>A	ENST00000274181.7	+	3	433	c.295C>A	c.(295-297)Ctt>Att	p.L99I	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L99I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	99					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L99I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCTCTTCACCTTCGGCTGAA	0.562000													46	98					1.62263e-30	3.01425e-30	0.014410	1	0
FAM32A	26017	broad.mit.edu	37	19	16301759	16301759	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:16301759C>T	ENST00000263384.7	+	4	357	c.332C>T	c.(331-333)aCg>aTg	p.T111M	FAM32A_ENST00000588367.1_Missense_Mutation_p.T93M|FAM32A_ENST00000589852.1_Missense_Mutation_p.T91M	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	111						nucleolus		p.T111M(1)		lung(1)	1						GTCAGCTGGACGAAGTAGCCG	0.557000													7	64					0	0	0.003080	0	0
LIG1	3978	broad.mit.edu	37	19	48634422	48634422	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:48634422C>T	ENST00000263274.7	-	19	2151	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	LIG1_ENST00000536218.1_Missense_Mutation_p.A510T|LIG1_ENST00000427526.2_Missense_Mutation_p.A547T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	578					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.A578T(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCTTCCAGGGCGTGGATCTGT	0.577000								Nucleotide excision repair (NER)					26	57					0	0	0.006320	0	0
MUC17	140453	broad.mit.edu	37	7	100683920	100683920	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr7:100683920A>T	ENST00000306151.4	+	3	9287	c.9223A>T	c.(9223-9225)Agt>Tgt	p.S3075C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3075	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3075C(1)		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)					TGACTCCAACAGTCCTGTGGT	0.473000													88	210					0	0	0.014410	0	0
TYR	7299	broad.mit.edu	37	11	88911297	88911297	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:88911297T>A	ENST00000263321.5	+	1	678	c.176T>A	c.(175-177)cTt>cAt	p.L59H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	59					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L59H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGAATATCCTTCTGTCCAAT	0.547000													11	48					0	0	0.010729	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904139	144904139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:144904139C>T	ENST00000370490.1	+	1	4451	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Q66*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	66						integral to membrane		p.Q66*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAATCTATCAGCTTTTTCT	0.433000													26	157					0	0	0.024334	0	0
NUF2	83540	broad.mit.edu	37	1	163309231	163309231	+	Silent	SNP	A	A	G			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:163309231A>G	ENST00000271452.3	+	8	849	c.570A>G	c.(568-570)ctA>ctG	p.L190L	NUF2_ENST00000367900.3_Silent_p.L190L|NUF2_ENST00000524800.1_Silent_p.L190L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	190	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.L190L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTCAGGAGCTACAACAATCAC	0.353000													5	61					0	0	0.014758	0	0
SEPT6	23157	broad.mit.edu	37	X	118783987	118783987	+	Silent	SNP	G	G	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:118783987G>A	ENST00000394610.1	-	5	867	c.603C>T	c.(601-603)atC>atT	p.I201I	SEPT6_ENST00000489216.1_Silent_p.I201I|SEPT6_ENST00000354228.4_Silent_p.I201I|SEPT6_ENST00000394617.2_Silent_p.I231I|SEPT6_ENST00000360156.7_Silent_p.I201I|SEPT6_ENST00000354416.3_Silent_p.I201I|SEPT6_ENST00000394616.4_Silent_p.I143I|SEPT6_ENST00000343984.5_Silent_p.I201I	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	201					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.I201I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCGCTGGTGATTTTGATTT	0.488000			T	MLL	AML								50	280					0	0	0.014410	0	0
DYTN	391475	broad.mit.edu	37	2	207527706	207527706	+	Silent	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:207527706T>C	ENST00000452335.2	-	11	1670	c.1554A>G	c.(1552-1554)agA>agG	p.R518R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	518						plasma membrane	zinc ion binding	p.R518R(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GCTCATCCTTTCTCTCCTTGA	0.463000													10	162					0	0	0.010729	0	0
FSTL1	11167	broad.mit.edu	37	3	120122105	120122105	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr3:120122105G>T	ENST00000295633.3	-	8	1034	c.678C>A	c.(676-678)ttC>ttA	p.F226L	FSTL1_ENST00000424703.2_Missense_Mutation_p.F191L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	226	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	p.F226L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CAGGAGGGTTGAAAGATGGGT	0.448000													10	100					0.00829132	0.00874922	0.008291	1	0
STARD8	9754	broad.mit.edu	37	X	67937356	67937356	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:67937356C>A	ENST00000252336.6	+	5	732	c.360C>A	c.(358-360)gcC>gcA	p.A120A	STARD8_ENST00000374597.3_Silent_p.A120A|STARD8_ENST00000374599.3_Silent_p.A200A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	120					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A120A(2)|p.A200A(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGGACAAAGCCAAGAAGCGCC	0.632000													12	107					0.00136819	0.00148777	0.013537	1	0
DPYS	1807	broad.mit.edu	37	8	105436574	105436574	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:105436574C>A	ENST00000351513.2	-	7	1268	c.1136G>T	c.(1135-1137)aGc>aTc	p.S379I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	379					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.S379I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCATTTGTGCTGGTAACTGC	0.358000													7	119					0.00198382	0.00215282	0.001984	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147040887	147040887	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:147040887T>C	ENST00000265272.5	-	3	718	c.251A>G	c.(250-252)gAg>gGg	p.E84G	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E84G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E42G	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	84						Golgi apparatus		p.E84G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGCAGCTCCTTCATCTT	0.532000													70	348					0	0	0.014410	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552161	228552161	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:228552161C>A	ENST00000258403.3	-	6	1514	c.1443G>T	c.(1441-1443)gtG>gtT	p.V481V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V477V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	481					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.V481V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTGGGTGAGACACATCTGGAT	0.403000													26	129					3.65163e-15	6.01114e-15	0.006320	1	0
SEMG2	6407	broad.mit.edu	37	20	43851907	43851907	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:43851907G>T	ENST00000372769.3	+	2	1724	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	545	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R545I(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAAAAGGCAGATACAAACAG	0.373000													17	98					1.37285e-15	2.28098e-15	0.028581	1	0
ZNF780A	284323	broad.mit.edu	37	19	40580836	40580836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr19:40580836C>A	ENST00000450241.2	-	6	1722	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.E506*|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.E506*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.E505*|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.E505*			O75290	Z780A_HUMAN	zinc finger protein 780A	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E471*(1)|p.E506*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCCCACACTCCTTACATTCA	0.423000													27	93					0.000117367	0.000133883	0.027356	1	0
ICA1L	130026	broad.mit.edu	37	2	203682164	203682164	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:203682164A>C	ENST00000392237.2	-	7	818	c.661T>G	c.(661-663)Tct>Gct	p.S221A	ICA1L_ENST00000358299.2_Missense_Mutation_p.S221A	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	221	AH.							p.S221A(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCGAATGAGATAGCATATTG	0.408000													4	103					0	0	0.014758	0	0
KCNMA1	3778	broad.mit.edu	37	10	78704598	78704598	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr10:78704598C>A	ENST00000286627.5	-	22	3613	c.2661G>T	c.(2659-2661)ttG>ttT	p.L887F	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.L887F|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.L945F|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.L948F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L928F|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.L887F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.L949F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.L945F	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	945					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.L949F(1)|p.L887F(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGAGTGACGCCAAGATGCATT	0.448000													15	71					1.49906e-05	1.78221e-05	0.020292	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060939	35060939	+	Silent	SNP	C	C	A			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:35060939C>A	ENST00000373913.3	+	3	1299	c.819C>A	c.(817-819)ccC>ccA	p.P273P	DLGAP4_ENST00000401952.2_Silent_p.P273P|DLGAP4_ENST00000373907.2_Silent_p.P273P|DLGAP4_ENST00000339266.5_Silent_p.P273P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	273	Poly-Pro.				cell-cell signaling	membrane	protein binding	p.P273P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGCCCGCACCCCCAGCCACCT	0.627000													8	18					0.000673444	0.000744406	0.008291	1	0
ABCB9	23457	broad.mit.edu	37	12	123444365	123444365	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr12:123444365C>T	ENST00000542678.1	-	2	3256	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	ABCB9_ENST00000442028.2_Missense_Mutation_p.V140M|ABCB9_ENST00000540285.1_Missense_Mutation_p.V140M|ABCB9_ENST00000392439.3_Missense_Mutation_p.V140M|ABCB9_ENST00000346530.5_Missense_Mutation_p.V140M|ABCB9_ENST00000344275.7_Missense_Mutation_p.V140M|ABCB9_ENST00000280560.8_Missense_Mutation_p.V140M|ABCB9_ENST00000442833.2_Missense_Mutation_p.V140M			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	140					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.V140M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCTGGCCGCACGGTGGACAGC	0.716000													4	17					0	0	0.021553	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910160	101910160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chrX:101910160G>T	ENST00000537097.1	+	6	2132	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	440						cytoplasm	protein binding	p.W440F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTTGGTTCTGGACTGAAGAA	0.517000													20	203					1.15919e-05	1.3843e-05	0.008871	1	0
NPR3	4883	broad.mit.edu	37	5	32712141	32712141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:32712141G>T	ENST00000265074.8	+	1	602	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.G87W|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	87					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.G87W(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGGCAACGGGACTGGGAG	0.637000													14	61					5.03518e-11	7.40061e-11	0.007413	1	0
LRFN5	145581	broad.mit.edu	37	14	42356876	42356876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:42356876A>T	ENST00000554171.1	+	5	3480	c.1048A>T	c.(1048-1050)Aag>Tag	p.K350*	LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K350*|LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K350*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	350	Ig-like.					integral to membrane		p.K350*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CACAACTGTAAAGGATACAGG	0.393000										HNSCC(30;0.082)			33	149					0	0	0.012213	0	0
CD1E	913	broad.mit.edu	37	1	158325255	158325255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:158325255G>T	ENST00000444681.2	+	2	517	c.224G>T	c.(223-225)cGc>cTc	p.R75L	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000452291.2_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	174					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.R174L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGCTCAATCGCTACCTAGAT	0.507000													16	134					0.000422831	0.000473253	0.028581	1	0
C1orf168	199920	broad.mit.edu	37	1	57219534	57219534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:57219534delG	ENST00000343433.6	-	8	1285	c.1205delC	c.(1204-1206)cafs	p.P402fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	402										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTTTGAATATGGTTCCTTTTC	0.363													17	56	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													11	500	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr2:165365288delT	ENST00000263915.3	-	7	1429	c.891delA	c.(889-891)aafs	p.K297fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	297	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373													8	165	---	---	---	---					
PCDHGA9	56107	broad.mit.edu	37	5	140783119	140783119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr5:140783119delG	ENST00000573521.1	+	1	600	c.600delG	c.(598-600)ctfs	p.L200fs	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGCCCTGGACAGGGAGG	0.632													7	50	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26426984	26426984	+	RNA	DEL	T	T	-	rs79308421		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr6:26426984delT	ENST00000466808.2	+	0	1067																											GAACCTAGTCTTTTTTTTTTT	0.428													2	4	---	---	---	---					
KBTBD3	143879	broad.mit.edu	37	11	105924167	105924167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr11:105924167delC	ENST00000526793.1	-	3	1408	c.1249delG	c.(1249-1251)acfs	p.D417fs	KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.D338fs|KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.D417fs	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	413										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTTTTAATGTCCCGGGATCCT	0.388													7	36	---	---	---	---					
MYH6	4624	broad.mit.edu	37	14	23871694	23871694	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:23871694delC	ENST00000405093.3	-	12	1190	c.1120delG	c.(1120-1122)cgfs	p.A374fs	MYH6_ENST00000356287.3_Frame_Shift_Del_p.A374fs	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	374	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTGGCTCCGCCTGCTCCTCC	0.622													17	158	---	---	---	---					
RGS6	9628	broad.mit.edu	37	14	72925085	72925085	+	Splice_Site	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr14:72925085delG	ENST00000553530.1	+	5	549	c.342_splice	c.e5+1	p.Q114_splice	RGS6_ENST00000404301.2_Splice_Site_p.Q114_splice|RGS6_ENST00000343854.6_Splice_Site_p.Q114_splice|RGS6_ENST00000553525.1_Splice_Site_p.Q114_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Splice_Site_p.Q114_splice|RGS6_ENST00000355512.6_Splice_Site_p.Q114_splice|RGS6_ENST00000406236.4_Splice_Site_p.Q114_splice|RGS6_ENST00000407322.4_Splice_Site_p.Q114_splice|RGS6_ENST00000434263.2_Splice_Site_p.Q45_splice|RGS6_ENST00000402788.2_Splice_Site_p.Q114_splice|RGS6_ENST00000556437.1_Splice_Site_p.Q114_splice	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	114	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATCGTTTCCAGGTAAGCCTGC	0.463													10	91	---	---	---	---					
NOP56	10528	broad.mit.edu	37	20	2636619	2636619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:2636619delA	ENST00000329276.5	+	8	1465	c.949delA	c.(949-951)acfs	p.N317fs	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	317	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CAGCCTCACCAACCTGGCCAA	0.562													11	62	---	---	---	---					
OVOL2	58495	broad.mit.edu	37	20	18022316	18022317	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:18022316_18022317delCA	ENST00000278780.6	-	3	614_615	c.372_373delTG	c.(370-375)tggcfs	p.CG124fs	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	124					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AAGCCCTTGCCACACAGGTCAC	0.614													7	64	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889873	58889874	+	RNA	INS	-	-	CCAT			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:58889873_58889874insCCAT	ENST00000432910.1	+	0	332					NR_046099.1																						catccatcctcccatcctccca	0.540													2	4	---	---	---	---					
ARFGAP1	55738	broad.mit.edu	37	20	61907501	61907501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	da5203dd-6288-46be-82cb-6c5f5d4cf129	g.chr20:61907501delG	ENST00000370275.4	+	3	211	c.119delG	c.(118-120)tgfs	p.W40fs	ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000353546.3_Frame_Shift_Del_p.W40fs|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Frame_Shift_Del_p.W40fs			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	40	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TACGGCATCTGGATCTGCCTG	0.627													24	290	---	---	---	---					
C1orf168	199920	broad.mit.edu	37	1	57219534	57219534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:57219534delG	ENST00000343433.6	-	8	1285	c.1205delC	c.(1204-1206)cafs	p.P402fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	402										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTTTGAATATGGTTCCTTTTC	0.363													17	56	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				8	29	---	---	---	---					
CALM2	805	broad.mit.edu	37	2	47387941	47387942	+	Frame_Shift_Ins	INS	-	-	CT	rs11551462		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:47387941_47387942insCT	ENST00000272298.7	-	6	580_581	c.423_424insAG	c.(421-426)gattgtfs	p.DC141fs	CALM2_ENST00000409563.1_Frame_Shift_Ins_p.DC188fs|CALM2_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	141	EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATTTGTACAAACTCTGAAAAAG	0.267													2	4	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr2:165365288delT	ENST00000263915.3	-	7	1429	c.891delA	c.(889-891)aafs	p.K297fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	297	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373													8	165	---	---	---	---					
PCDHGA9	56107	broad.mit.edu	37	5	140783119	140783119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr5:140783119delG	ENST00000573521.1	+	1	600	c.600delG	c.(598-600)ctfs	p.L200fs	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGCCCTGGACAGGGAGG	0.632													7	50	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													9	113	---	---	---	---					
KBTBD3	143879	broad.mit.edu	37	11	105924167	105924167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr11:105924167delC	ENST00000526793.1	-	3	1408	c.1249delG	c.(1249-1251)acfs	p.D417fs	KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.D417fs|KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.D338fs	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	413										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTTTTAATGTCCCGGGATCCT	0.388													7	36	---	---	---	---					
MYH6	4624	broad.mit.edu	37	14	23871694	23871694	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:23871694delC	ENST00000405093.3	-	12	1190	c.1120delG	c.(1120-1122)cgfs	p.A374fs	MYH6_ENST00000356287.3_Frame_Shift_Del_p.A374fs	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	374	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTGGCTCCGCCTGCTCCTCC	0.622													17	158	---	---	---	---					
RGS6	9628	broad.mit.edu	37	14	72925085	72925085	+	Splice_Site	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:72925085delG	ENST00000553530.1	+	5	549	c.342_splice	c.e5+1	p.Q114_splice	RGS6_ENST00000343854.6_Splice_Site_p.Q114_splice|RGS6_ENST00000404301.2_Splice_Site_p.Q114_splice|RGS6_ENST00000555571.1_Splice_Site_p.Q114_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000355512.6_Splice_Site_p.Q114_splice|RGS6_ENST00000406236.4_Splice_Site_p.Q114_splice|RGS6_ENST00000407322.4_Splice_Site_p.Q114_splice|RGS6_ENST00000402788.2_Splice_Site_p.Q114_splice|RGS6_ENST00000553525.1_Splice_Site_p.Q114_splice|RGS6_ENST00000556437.1_Splice_Site_p.Q114_splice|RGS6_ENST00000434263.2_Splice_Site_p.Q45_splice	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	114	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATCGTTTCCAGGTAAGCCTGC	0.463													10	91	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													13	58	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													9	15	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													5	9	---	---	---	---					
C16orf3	750	broad.mit.edu	37	16	90095545	90095546	+	In_Frame_Ins	INS	-	-	CTACGGGGCAGCCTATGGGGCAGG	rs11274945		TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG	ENST00000408886.2	-	1	763_764	c.205_206insCCTGCCCCATAGGCTGCCCCGTAG	c.(205-207)ctc>CCTGCCCCATAGGCTGCCCCGTAGctc	p.68_69insPAP*AAP*	GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	76										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGCCATGGAGCctacggggcag	0.658													5	5	---	---	---	---					
OVOL2	58495	broad.mit.edu	37	20	18022316	18022317	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:18022316_18022317delCA	ENST00000278780.6	-	3	614_615	c.372_373delTG	c.(370-375)tggcfs	p.CG124fs	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	124					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AAGCCCTTGCCACACAGGTCAC	0.614													7	64	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	4	---	---	---	---					
ARFGAP1	55738	broad.mit.edu	37	20	61907501	61907501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2657-01A-01D-1105-08	TCGA-44-2657-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aa9b45-13b9-4b61-a30f-ae3f88466040	b136159c-9feb-424d-b8a8-eaa47f4155f7	g.chr20:61907501delG	ENST00000370275.4	+	3	211	c.119delG	c.(118-120)tgfs	p.W40fs	ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000370283.4_Frame_Shift_Del_p.W40fs|ARFGAP1_ENST00000353546.3_Frame_Shift_Del_p.W40fs			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	40	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TACGGCATCTGGATCTGCCTG	0.627													24	290	---	---	---	---					
