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
CXXC1	30827	broad.mit.edu	37	18	47809014	47809014	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:47809014C>T	ENST00000285106.6	-	15	2634	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	CXXC1_ENST00000589940.1_3'UTR|CXXC1_ENST00000412036.2_Silent_p.T644T	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	640					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CGTGCTGGATCGTCTGGTGCA	0.642000													8	58					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921358	247921358	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:247921358C>T	ENST00000408896.2	-	1	624	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488000													7	51					0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80577179	80577179	+	Missense_Mutation	SNP	G	G	T	rs149421698	byFrequency	TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:80577179G>T	ENST00000305904.6	+	2	130	c.10G>T	c.(10-12)Gtg>Ttg	p.V4L	DYNLRB2_ENST00000568035.1_Missense_Mutation_p.V4L|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.V33L	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	4					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						TCAGGCAGAGGTGGAGGAAAC	0.413000													13	39					0.000422831	0.000462904	1	1	0
SSPO	23145	broad.mit.edu	37	7	149482754	149482754	+	RNA	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:149482754G>T	ENST00000378016.2	+	0	3170							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACCTGCCCTGTGGGGCCAGC	0.602000													3	8					0.115264	0.117724	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81183335	81183335	+	RNA	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:81183335C>A	ENST00000525539.1	-	0	4712				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGGGACCCCCCAGAACATGA	0.597000													5	14					1.23904e-05	1.41183e-05	1	1	0
SLC38A10	124565	broad.mit.edu	37	17	79246348	79246348	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:79246348C>T	ENST00000374759.3	-	9	1375	c.992G>A	c.(991-993)gGa>gAa	p.G331E	SLC38A10_ENST00000546352.1_Intron|SLC38A10_ENST00000288439.5_Missense_Mutation_p.G331E	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	331					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AACCATGGTTCCAAACACCAC	0.557000													14	79					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70976696	70976696	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:70976696G>A	ENST00000322954.6	-	8	877	c.692C>T	c.(691-693)gCg>gTg	p.A231V	UACA_ENST00000560441.1_Missense_Mutation_p.A218V|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Missense_Mutation_p.A218V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	231						cytoskeleton|extracellular region		p.A218V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATGGCCAAGCGCATCCAGCAA	0.408000													28	69					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793407	186793407	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:186793407C>G	ENST00000169298.3	+	8	1711	c.1037C>G	c.(1036-1038)tCc>tGc	p.S346C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.S115C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S346C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	346					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TTCCTCCCATCCAAGCGCAAG	0.522000													13	41					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149884960	149884960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:149884960G>A	ENST00000369146.3	-	2	923	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.R145*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	145					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R145*(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGTTCTTCTCGTTCTTTCCGT	0.637000													3	40					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156670710	156670710	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:156670710G>T	ENST00000422843.3	+	12	1290	c.1138G>T	c.(1138-1140)Ggc>Tgc	p.G380C	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	380	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCATCTGGGCTACTGGCT	0.498000			T	SYK	peripheral T-cell lymphoma								17	68					1.22574e-08	1.46129e-08	1	1	0
SNX9	51429	broad.mit.edu	37	6	158358492	158358492	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:158358492G>A	ENST00000392185.3	+	15	1641	c.1470G>A	c.(1468-1470)atG>atA	p.M490I		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	490	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ATTTCCTGATGGAATGTAATC	0.383000													9	99					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123516999	123516999	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:123516999C>T	ENST00000223026.4	+	5	1874	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	HYAL4_ENST00000476325.1_Silent_p.D412D	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	412					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCTCTGAGGACGGGGAGTTTA	0.478000													5	46					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2191016	2191016	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:2191016G>T	ENST00000398665.3	+	5	306	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	90						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGTGGAAGGGCACCACGC	0.652000													3	9					0.115264	0.117724	1	1	0
KLHL38	340359	broad.mit.edu	37	8	124663831	124663831	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:124663831C>A	ENST00000325995.7	-	1	1359	c.1336G>T	c.(1336-1338)Gtg>Ttg	p.V446L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	446										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATAAGGCGCACAGGGTTCTGC	0.547000													36	59					3.4345e-17	4.62071e-17	1	1	0
STARD13	90627	broad.mit.edu	37	13	33703375	33703375	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr13:33703375T>C	ENST00000336934.5	-	5	1555	c.1439A>G	c.(1438-1440)gAt>gGt	p.D480G	STARD13_ENST00000255486.4_Missense_Mutation_p.D472G|STARD13_ENST00000399365.3_Missense_Mutation_p.D362G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	480					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GAAAAGGTCATCTTTCTCCAA	0.502000													27	31					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888884	86888884	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:86888884C>A	ENST00000373119.4	+	8	1830	c.1685C>A	c.(1684-1686)aCa>aAa	p.T562K	KLHL4_ENST00000373114.4_Missense_Mutation_p.T562K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	562						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCTAGAAGCACAGTTGGTGTT	0.433000													9	15					0.000442599	0.000482967	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119770395	119770395	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:119770395C>T	ENST00000313400.4	-	7	1667	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.E472K|ASTN2_ENST00000373996.3_Missense_Mutation_p.E523K			O75129	ASTN2_HUMAN	astrotactin 2	523	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGAGCTGCTCACAGGCATCT	0.577000													4	54					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161414	55161414	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:55161414A>G	ENST00000257290.5	+	23	3576	c.3245A>G	c.(3244-3246)gAc>gGc	p.D1082G	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D842G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1082	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACTCTTCAGACCTGGTGGAA	0.512000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			12	95					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13809157	13809157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:13809157C>A	ENST00000265104.4	-	46	7852	c.7748G>T	c.(7747-7749)gGc>gTc	p.G2583V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2583	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATACCTTGCCCTGTTTAGC	0.373000									Kartagener syndrome				12	84					0.00136819	0.00147378	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761300	55761300	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:55761300G>T	ENST00000278409.1	-	1	801	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCTGATTCAGGGAGTAGCTG	0.473000													20	46					5.35356e-11	6.61787e-11	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777150	18777150	+	Silent	SNP	A	A	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:18777150A>C	ENST00000380548.4	+	19	3262	c.2923A>C	c.(2923-2925)Aga>Cga	p.R975R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	975						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTGAGCCCGAGAAGTGAGGA	0.647000													5	40					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020194	156020194	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:156020194G>A	ENST00000368309.3	-	4	721	c.629C>T	c.(628-630)tCt>tTt	p.S210F	UBQLN4_ENST00000368307.1_Intron|UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	210						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					ATCAGGGTTAGACATCATATC	0.522000													5	231					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812657	140812657	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:140812657C>G	ENST00000252085.3	+	1	2473	c.2331C>G	c.(2329-2331)gaC>gaG	p.D777E	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATGCAGACATGCTCGTCA	0.522000													11	127					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458401	101458401	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:101458401G>A	ENST00000370489.4	+	10	1299	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	374						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTACATGTCCGAGGAAGAGGA	0.562000													11	41					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55892662	55892662	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:55892662C>A	ENST00000373965.2	-	16	2305	c.1911G>T	c.(1909-1911)agG>agT	p.R637S	PCDH15_ENST00000373957.3_Missense_Mutation_p.R608S|PCDH15_ENST00000373955.1_Missense_Mutation_p.R630S|PCDH15_ENST00000395432.2_Missense_Mutation_p.R593S|PCDH15_ENST00000395433.1_Missense_Mutation_p.R608S|PCDH15_ENST00000395438.1_Missense_Mutation_p.R630S|PCDH15_ENST00000395430.1_Missense_Mutation_p.R630S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R630S|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R630S|PCDH15_ENST00000409834.1_Missense_Mutation_p.R241S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R635S|PCDH15_ENST00000395445.1_Missense_Mutation_p.R637S|PCDH15_ENST00000395446.1_Missense_Mutation_p.R630S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	630	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGCACCAACCCTCATGGCTT	0.408000										HNSCC(58;0.16)			12	14					7.03913e-09	8.452e-09	1	1	0
GRM8	2918	broad.mit.edu	37	7	126410032	126410032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:126410032G>A	ENST00000339582.2	-	7	2052	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	GRM8_ENST00000444921.2_Missense_Mutation_p.A415V|GRM8_ENST00000405249.1_Missense_Mutation_p.A415V|GRM8_ENST00000358373.3_Missense_Mutation_p.A415V|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	415					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATTGTGCAGGGCGTAAGCCAT	0.438000										HNSCC(24;0.065)			6	40					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991355	70991355	+	Silent	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:70991355T>C	ENST00000256389.3	-	2	514	c.270A>G	c.(268-270)ccA>ccG	p.P90P	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	40					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCACCACTTCTGGAGAAGTGA	0.532000													5	22					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513572	149513572	+	Splice_Site	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:149513572C>A	ENST00000261799.4	-	5	1101		c.e5-1			NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGGATGACACTGGTAGAGAG	0.542000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								13	74					3.45872e-05	3.90125e-05	1	1	0
CLEC1B	51266	broad.mit.edu	37	12	10150953	10150953	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:10150953G>C	ENST00000298527.6	-	2	270	c.91C>G	c.(91-93)Cgt>Ggt	p.R31G	CLEC1B_ENST00000348658.4_Intron|CLEC1B_ENST00000428126.2_Intron	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	31					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GCCATCACACGCCACCAGGAG	0.532000													34	61					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153042	105153042	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:105153042G>T	ENST00000428173.2	+	13	1715	c.1412G>T	c.(1411-1413)cGa>cTa	p.R471L	NRK_ENST00000243300.9_Missense_Mutation_p.R470L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	470	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			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						GCACCTCCACGACTACGGAGG	0.557000										HNSCC(51;0.14)			5	5					0.184627	0.185736	1	1	0
LZTR1	8216	broad.mit.edu	37	22	21336852	21336852	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr22:21336852G>T	ENST00000215739.8	+	1	551	c.192G>T	c.(190-192)gtG>gtT	p.V64V	LZTR1_ENST00000389355.3_Silent_p.V64V|LZTR1_ENST00000479606.1_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	64					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGAGTTCGTGGGTGCCCGGT	0.677000													3	18					0.150653	0.152015	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208224761	208224761	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:208224761T>C	ENST00000367033.3	-	16	3758	c.3001A>G	c.(3001-3003)Atg>Gtg	p.M1001V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1001	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATCTCACTCATTGACCTCCTG	0.572000													4	29					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38595897	38595897	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:38595897C>T	ENST00000413689.1	-	27	4879	c.4686G>A	c.(4684-4686)aaG>aaA	p.K1562K	SCN5A_ENST00000333535.4_Silent_p.K1562K|SCN5A_ENST00000451551.2_Silent_p.K1508K|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000455624.2_Silent_p.K1561K|SCN5A_ENST00000450102.2_Silent_p.K1508K|SCN5A_ENST00000449557.2_Silent_p.K1508K|SCN5A_ENST00000443581.1_Silent_p.K1561K|SCN5A_ENST00000425664.1_Silent_p.K1544K|SCN5A_ENST00000423572.2_Silent_p.K1561K|SCN5A_ENST00000414099.2_Silent_p.K1544K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1562					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGGTTGATCTTGGCCAAGA	0.478000													9	86					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125562071	125562071	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:125562071G>A	ENST00000276689.3	+	4	562	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	NDUFB9_ENST00000517830.1_3'UTR|NDUFB9_ENST00000517367.1_Missense_Mutation_p.E149K|NDUFB9_ENST00000522532.1_Intron	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	160					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TGCCCGAAAGGAAGGTGATTT	0.522000													7	47					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557595	149557595	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:149557595A>G	ENST00000223210.4	+	7	1591	c.1346A>G	c.(1345-1347)gAa>gGa	p.E449G		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ATTTGTGAGGAAGGAGATGGA	0.567000													26	59					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101717763	101717763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr13:101717763C>T	ENST00000251127.6	-	40	4678	c.4597G>A	c.(4597-4599)Gtc>Atc	p.V1533I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1533						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTCAGGACATCATGGAAG	0.542000													27	61					0	0	1	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38380471	38380471	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:38380471G>A	ENST00000329553.2	+	2	329	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GCGCCGTGGCGACCTTGGATC	0.577000													5	41					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483984	15483984	+	Missense_Mutation	SNP	C	C	T	rs144996992		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:15483984C>T	ENST00000269701.2	-	5	599	c.539G>A	c.(538-540)cGg>cAg	p.R180Q		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	180					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AAGGGAGCCCCGCTCCCGGGC	0.682000													3	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:7579533G>A	ENST00000420246.2	-	4	286	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGAACCATTGTTCAATATCG	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			61	97					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156712415	156712415	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:156712415A>C	ENST00000347377.6	+	2	475	c.44A>C	c.(43-45)gAc>gCc	p.D15A	CYFIP2_ENST00000522463.1_Missense_Mutation_p.D15A|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D15A|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D15A|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D15A|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D15A	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	15					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAACGTGGACCTGCTTGAA	0.542000													4	10					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380681	147380681	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:147380681C>A	ENST00000240986.4	+	2	652	c.599C>A	c.(598-600)aCg>aAg	p.T200K	GJA8_ENST00000369235.1_Missense_Mutation_p.T200K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	200					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCCCGGCCCACGGAGAAAACC	0.607000													16	70					1.15088e-07	1.36235e-07	1	1	0
DLL1	28514	broad.mit.edu	37	6	170592510	170592510	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:170592510C>A	ENST00000366756.3	-	9	2190	c.1857G>T	c.(1855-1857)gcG>gcT	p.A619A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	619					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CGTGGAAGTCCGCCTTCTTGT	0.587000													4	104					0.150653	0.152015	1	1	0
GABRG3	2567	broad.mit.edu	37	15	27777758	27777758	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:27777758C>A	ENST00000333743.6	+	10	1389	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	379					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTATTCCCTCCTGGACATGAG	0.418000													6	17					0.27861	0.279445	1	1	0
NCOA1	8648	broad.mit.edu	37	2	24929670	24929670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:24929670C>G	ENST00000405141.1	+	14	2042	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	NCOA1_ENST00000406961.1_Nonsense_Mutation_p.S444*|NCOA1_ENST00000407230.1_Nonsense_Mutation_p.S293*|NCOA1_ENST00000395856.3_Nonsense_Mutation_p.S444*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.S444*|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.S444*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.S444*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	444	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCGGATGCTCACCCGGAAGT	0.458000			T	PAX3	alveolar rhadomyosarcoma								12	99					0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202843336	202843336	+	RNA	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:202843336G>C	ENST00000456105.2	+	0	1288					NR_002929.2																						CACCTTCCCTGAGCGCAAGTC	0.567000													3	10					0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50385968	50385968	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:50385968G>C	ENST00000232501.3	-	7	1148	c.710C>G	c.(709-711)tCc>tGc	p.S237C	NPRL2_ENST00000493465.1_5'UTR	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	237					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CTGGAGGATGGACACCAGTGT	0.582000													6	59					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213302	21213302	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:21213302G>C	ENST00000574002.1	-	13	1812	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.L444V|ZP2_ENST00000574091.1_Missense_Mutation_p.L444V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	444	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCGTCCAGAGAGCATGTATT	0.373000													8	65					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239860	5239860	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:5239860C>G	ENST00000274181.7	+	16	2483	c.2345C>G	c.(2344-2346)tCt>tGt	p.S782C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	782	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						ATGAACGTCTCTACCTCCTAC	0.493000													6	103					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142083991	142083991	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:142083991C>T	ENST00000264951.4	-	29	3409	c.3292G>A	c.(3292-3294)Gat>Aat	p.D1098N	XRN1_ENST00000392981.2_Missense_Mutation_p.D1098N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1098					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GCATCCCGATCAGGAATGACT	0.348000													4	34					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47765548	47765548	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:47765548C>A	ENST00000273857.4	-	4	464	c.465G>T	c.(463-465)acG>acT	p.T155T	CORIN_ENST00000508498.1_Silent_p.T16T|CORIN_ENST00000504584.1_Silent_p.T155T|CORIN_ENST00000502252.1_Silent_p.T88T|CORIN_ENST00000505909.1_Silent_p.T155T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	155	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAGGTGTCAGCGTGGCGTGGT	0.468000													19	89					1.96895e-08	2.339e-08	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8341727	8341727	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:8341727C>G	ENST00000381196.4	-	37	5456	c.4913G>C	c.(4912-4914)gGa>gCa	p.G1638A	PTPRD_ENST00000397617.3_Missense_Mutation_p.G1231A|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1232A|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1638A|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1638A|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1231A|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1616A|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1228A|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1231A|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1228A|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1625A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1638					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACATTCTCTCCCGTTTCTAT	0.433000										TSP Lung(15;0.13)			31	94					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505431	70505431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:70505431G>A	ENST00000310961.5	+	22	4243	c.3825G>A	c.(3823-3825)tgG>tgA	p.W1275*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W1270*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W554*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1270						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGCAGACTGGAGACAACAGC	0.448000													9	74					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262417	43262417	+	Missense_Mutation	SNP	G	G	A	rs140447066	by1000genomes	TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:43262417G>A	ENST00000404209.4	-	3	542	c.446C>T	c.(445-447)cCc>cTc	p.P149L	PSG8_ENST00000306511.4_Missense_Mutation_p.P149L|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.P27L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	149	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGAGATGGAGGGCTTGGGAGT	0.522000													50	68					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62437222	62437222	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:62437222C>A	ENST00000431002.2	-	1	2015	c.282G>T	c.(280-282)gtG>gtT	p.V94V	C11orf48_ENST00000532208.1_Silent_p.V68V|C11orf48_ENST00000354588.3_Silent_p.V68V			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	94										endometrium(1)|lung(5)|urinary_tract(1)	7						TCTCTTCATTCACCTCACTGG	0.527000													4	70					0.150653	0.152015	1	1	0
DAB1	1600	broad.mit.edu	37	1	57537266	57537266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:57537266C>T	ENST00000371236.2	-	6	750	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Missense_Mutation_p.E163K|DAB1_ENST00000371230.1_Missense_Mutation_p.E163K|DAB1_ENST00000371234.4_Missense_Mutation_p.E163K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.E163K|DAB1_ENST00000371231.1_Missense_Mutation_p.E163K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	163	PID.				cell differentiation|nervous system development					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						TGCTTCAATTCATAAATGAGT	0.413000													5	17					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426122	47426122	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:47426122C>T	ENST00000377045.4	+	7	836	c.642C>T	c.(640-642)tcC>tcT	p.S214S	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			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GCTCCACGTCCACTCCCAACG	0.667000													6	5					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589685	156589685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:156589685C>A	ENST00000302938.4	-	2	1686	c.1591G>T	c.(1591-1593)Gcc>Tcc	p.A531S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	531						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTTACTGGCTTTCTTTTGT	0.473000													3	21					0.004672	0.00490633	1	1	0
ATRN	8455	broad.mit.edu	37	20	3571954	3571954	+	Splice_Site	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:3571954G>T	ENST00000262919.5	+	19	3390		c.e19+1		ATRN_ENST00000446916.2_Splice_Site	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin						inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAATGTCAGCGTAAGTCAAAT	0.463000													15	85					1.33834e-09	1.62443e-09	1	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142232034	142232034	+	RNA	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:142232034G>A	ENST00000390364.3	-	0	56																											TCAGCTCCAGGGCAGGATCTT	0.567000													3	34					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530277	42530277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:42530277G>T	ENST00000282030.5	+	4	1268	c.972G>T	c.(970-972)gaG>gaT	p.E324D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	324						nucleus	DNA binding			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)		GTACAAAGGAGCCCCCAGAAC	0.542000									Schinzel-Giedion syndrome				9	25					7.48243e-07	8.76438e-07	1	1	0
USH2A	7399	broad.mit.edu	37	1	216370038	216370038	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:216370038C>T	ENST00000366943.2	-	19	4494	c.4108G>A	c.(4108-4110)Gtc>Atc	p.V1370I	USH2A_ENST00000307340.3_Missense_Mutation_p.V1370I|USH2A_ENST00000366942.3_Missense_Mutation_p.V1370I|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1370	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGGAAAGACTGAAGGAGGG	0.368000										HNSCC(13;0.011)			10	21					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81214828	81214828	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:81214828G>C	ENST00000599697.1	-	12	2045	c.2046C>G	c.(2044-2046)ctC>ctG	p.L682L	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	682	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGACCCTGAGCAGAATGT	0.532000													13	60					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13930173	13930173	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:13930173G>T	ENST00000254323.2	+	9	1765	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.G360C	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	526							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCCTGCAGGGGGTCCCTTCAG	0.637000													3	13					0.00024832	0.000274545	1	1	0
EGR2	1959	broad.mit.edu	37	10	64573782	64573782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:64573782G>A	ENST00000242480.3	-	2	941	c.616C>T	c.(616-618)Cct>Tct	p.P206S	EGR2_ENST00000439032.1_Missense_Mutation_p.P206S|EGR2_ENST00000411732.1_Missense_Mutation_p.P156S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	206					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGATAGGAAGGAGGTGGTGGG	0.572000													17	69					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2282276	2282276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:2282276G>T	ENST00000301727.4	+	4	568	c.520G>T	c.(520-522)Gca>Tca	p.A174S	E4F1_ENST00000564139.1_Missense_Mutation_p.A174S|E4F1_ENST00000565090.1_Missense_Mutation_p.A174S	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	174					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCTGGGGCTCGCAGGGGAGGG	0.667000													17	16					2.35188e-11	2.95086e-11	1	1	0
B3GALNT1	8706	broad.mit.edu	37	3	160804158	160804158	+	Silent	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:160804158A>G	ENST00000392781.2	-	8	1132	c.385T>C	c.(385-387)Ttg>Ctg	p.L129L	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Silent_p.L129L|B3GALNT1_ENST00000320474.4_Silent_p.L129L|B3GALNT1_ENST00000392780.1_Silent_p.L129L|B3GALNT1_ENST00000488170.1_Silent_p.L129L|B3GALNT1_ENST00000473285.1_Silent_p.L129L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	129					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GACAATGCCAACATTTTGTCT	0.383000													6	56					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633139	633139	+	Silent	SNP	G	G	A	rs150021665	byFrequency	TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:633139G>A	ENST00000026218.5	+	10	1876	c.1788G>A	c.(1786-1788)acG>acA	p.T596T	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	596					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTTTGTGGACGCTGCTGTGTG	0.647000													10	83					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138023810	138023810	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:138023810G>T	ENST00000383180.2	-	10	750	c.513C>A	c.(511-513)ctC>ctA	p.L171L	NME9_ENST00000317876.4_Silent_p.L171L|NME9_ENST00000536478.1_Silent_p.L171L|NME9_ENST00000341790.5_Silent_p.L169L|NME9_ENST00000484930.1_Silent_p.L169L|NME9_ENST00000333911.3_Silent_p.L232L	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	232	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CAGTCCTGGTGAGGATCAGGA	0.597000													12	141					4.36969e-10	5.3425e-10	1	1	0
RSRC2	65117	broad.mit.edu	37	12	122992965	122992965	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:122992965C>A	ENST00000331738.7	-	8	980	c.835G>T	c.(835-837)Gtt>Ttt	p.V279F	RSRC2_ENST00000354654.2_Missense_Mutation_p.V231F|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	279										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AGGGCAGCAACATTGAGAACA	0.433000													3	12					6.4e-05	7.17057e-05	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98685569	98685569	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:98685569C>G	ENST00000288985.7	+	9	1779	c.1474C>G	c.(1474-1476)Cag>Gag	p.Q492E	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.Q303E	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	492					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GATATGTGATCAGGTATTTTC	0.343000													4	57					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885555	88885555	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:88885555C>A	ENST00000319675.3	-	1	741	c.645G>T	c.(643-645)acG>acT	p.T215T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	215								p.T215T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCTGGTGTCCCGTCACCACGT	0.542000													24	130					2.48779e-11	3.10974e-11	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123601409	123601409	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:123601409G>C	ENST00000336139.4	-	3	550	c.188C>G	c.(187-189)gCt>gGt	p.A63G	ZNF202_ENST00000530393.1_Missense_Mutation_p.A63G|ZNF202_ENST00000529691.1_Missense_Mutation_p.A63G			O95125	ZN202_HUMAN	zinc finger protein 202	63	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTGATGAGAGCTTCTCTAGG	0.557000													7	35					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467266	133467266	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:133467266G>T	ENST00000402696.3	+	2	539	c.54G>T	c.(52-54)ctG>ctT	p.L18L	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Intron|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	18					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGCTGTGTCTGGCTGTCCCTG	0.572000													16	22					5.03518e-11	6.24736e-11	1	1	0
NEK1	4750	broad.mit.edu	37	4	170477147	170477147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:170477147G>A	ENST00000439128.2	-	16	2006	c.1366C>T	c.(1366-1368)Caa>Taa	p.Q456*	NEK1_ENST00000511633.1_Nonsense_Mutation_p.Q456*|NEK1_ENST00000510533.1_Nonsense_Mutation_p.Q456*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.Q456*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.Q431*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	456					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTGCTCTTTGTTGCTGCATT	0.418000													3	13					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18731128	18731128	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:18731128T>C	ENST00000513874.1	-	18	2943	c.2804A>G	c.(2803-2805)tAc>tGc	p.Y935C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	834										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTCAAGGATGTAGCCAGAGGG	0.587000													3	34					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008985	88008985	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:88008985C>A	ENST00000276127.4	+	3	829	c.570C>A	c.(568-570)caC>caA	p.H190Q	CPXCR1_ENST00000373111.1_Missense_Mutation_p.H190Q	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	190						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCACCCATCACGAGAGAGCCA	0.428000													12	4					4.7546e-09	5.72947e-09	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803549	185803549	+	Silent	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:185803549A>T	ENST00000302277.6	+	4	4020	c.3426A>T	c.(3424-3426)tcA>tcT	p.S1142S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1142						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCAGAACCTCATTACCTCAGC	0.537000													22	42					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067491	46067491	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:46067491C>G	ENST00000295452.4	-	4	599	c.432G>C	c.(430-432)tgG>tgC	p.W144C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	144					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGTCAGGAATCCAAATTTTTC	0.358000													10	17					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295330	51295330	+	Splice_Site	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:51295330C>A	ENST00000270593.1	+	5	451	c.450_splice	c.e5-1	p.L151_splice	ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	151						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ttttccccagctgCTGAGGTT	0.677000													2	1					0.115264	0.117724	1	1	0
AGR3	155465	broad.mit.edu	37	7	16900125	16900125	+	Splice_Site	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:16900125T>A	ENST00000310398.2	-	7	520	c.451_splice	c.e7+1	p.L150_splice	AGR3_ENST00000402239.3_Silent_p.L150L	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	150						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AATACTTACATAGGGGTAAAT	0.423000													17	51					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395018	49395018	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:49395018C>T	ENST00000419783.1	-	2	736	c.415G>A	c.(415-417)Gac>Aac	p.D139N	GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	139					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GCGGTGGCGTCGTCGCTGGGA	0.632000													11	22					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:100211914G>A	ENST00000524871.1	+	23	3297	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		ATTAGCCAACGAATCTGAAGT	0.433000													21	58					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695307	247695307	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:247695307C>A	ENST00000366487.3	-	2	868	c.507G>T	c.(505-507)ctG>ctT	p.L169L	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGTTCCCACACAGCGGTAGGA	0.552000													8	16					0.00307968	0.00325455	1	1	0
USP51	158880	broad.mit.edu	37	X	55513511	55513511	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:55513511A>G	ENST00000500968.3	-	2	1944	c.1862T>C	c.(1861-1863)aTg>aCg	p.M621T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	621					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AAACGGAGTCATGTCCAGCTC	0.443000													8	8					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18919367	18919367	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:18919367C>T	ENST00000284878.7	+	2	814	c.66C>T	c.(64-66)atC>atT	p.I22I	CXADR_ENST00000400166.1_Silent_p.I22I|CXADR_ENST00000356275.6_Silent_p.I22I|CXADR_ENST00000306618.10_Silent_p.I22I|CXADR_ENST00000400165.1_Silent_p.I22I|CXADR_ENST00000400169.1_Silent_p.I22I	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	22	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTTTGAGTATCACTACTCCTG	0.478000													6	74					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186147872	186147872	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:186147872C>T	ENST00000271588.4	+	104	16497	c.16268C>T	c.(16267-16269)tCt>tTt	p.S5423F	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5423					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTGAAGGCTCTGAGGCAAGC	0.443000													4	70					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7863072	7863072	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:7863072A>T	ENST00000264669.5	-	4	1699	c.1563T>A	c.(1561-1563)ttT>ttA	p.F521L	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	521					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGGGTAAGAAATGACTTCA	0.353000													12	196					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821220	151821220	+	Missense_Mutation	SNP	C	C	A	rs77796656		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:151821220C>A	ENST00000370306.2	+	9	1395	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	459						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCAGAGCAGGCCCGGCA	0.592000													12	46					2.61681e-11	3.25886e-11	1	1	0
BUD13	84811	broad.mit.edu	37	11	116633454	116633454	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:116633454C>G	ENST00000260210.4	-	4	874	c.851G>C	c.(850-852)aGa>aCa	p.R284T	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	284										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ACTTTTGGTTCTGGGCAGGGA	0.498000													10	72					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27368065	27368065	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:27368065C>T	ENST00000376087.4	-	7	931	c.766G>A	c.(766-768)Gat>Aat	p.D256N	ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D305N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	256						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGCCATGAATCATCAACACCC	0.333000													15	47					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45803358	45803358	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:45803358G>A	ENST00000261867.4	-	3	830	c.516C>T	c.(514-516)ttC>ttT	p.F172F	RP11-519G16.3_ENST00000560647.1_RNA|HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	172					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATCCAAAGGTGAATCTTTTGG	0.368000													9	156					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70993463	70993463	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:70993463G>T	ENST00000357250.6	-	6	915	c.757C>A	c.(757-759)Cat>Aat	p.H253N	COL9A1_ENST00000370496.3_Missense_Mutation_p.H253N	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	253	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCAGCTCATGGCAAGTTTCT	0.522000													5	15					0.00198382	0.00211649	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31771573	31771573	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:31771573C>G	ENST00000543095.2	-	33	5576	c.5392G>C	c.(5392-5394)Gaa>Caa	p.E1798Q	HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000389961.3_Missense_Mutation_p.E1792Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1505Q|RP11-596D21.1_ENST00000551799.1_RNA	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1792							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGGCTCTTTTCTGCCCGGGCC	0.483000													5	14					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15095501	15095501	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:15095501G>A	ENST00000228945.4	-	6	705	c.561C>T	c.(559-561)ctC>ctT	p.L187L	ARHGDIB_ENST00000541546.1_Silent_p.L187L|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.L187L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	187					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						ACTCCCAGCTGAGGTGGTCTT	0.552000													12	84					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73663380	73663380	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:73663380G>C	ENST00000055077.3	-	4	354	c.294C>G	c.(292-294)ctC>ctG	p.L98L	RFC2_ENST00000352131.3_Silent_p.L98L	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	98					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGGCATCTTTGAGTGCTGGGC	0.527000													3	70					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551522	248551522	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:248551522G>T	ENST00000355728.2	+	1	613	c.613G>T	c.(613-615)Gca>Tca	p.A205S		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			GTGCTGCGTTGCAATGCTGCT	0.512000													38	58					3.61848e-18	4.88786e-18	1	1	0
GRN	2896	broad.mit.edu	37	17	42427843	42427843	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:42427843C>T	ENST00000053867.3	+	6	558	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	166					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCACTGCTGTCCGCACGGTGC	0.632000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	191					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29726395	29726395	+	Missense_Mutation	SNP	C	C	T	rs142354304	byFrequency	TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr22:29726395C>T	ENST00000357586.2	-	21	2924	c.2738G>A	c.(2737-2739)cGg>cAg	p.R913Q	AP1B1_ENST00000402502.1_Missense_Mutation_p.R906Q|AP1B1_ENST00000432560.2_Missense_Mutation_p.R906Q|AP1B1_ENST00000356015.2_Missense_Mutation_p.R906Q|AP1B1_ENST00000415447.1_Missense_Mutation_p.R906Q|AP1B1_ENST00000317368.7_Missense_Mutation_p.R886Q|AP1B1_ENST00000405198.1_Missense_Mutation_p.R913Q	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	913					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGGCTGGATCCGCAGCTCCGC	0.667000													5	36					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996370	140996370	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:140996370C>T	ENST00000285879.4	+	4	3466	c.3180C>T	c.(3178-3180)ccC>ccT	p.P1060P	MAGEC1_ENST00000406005.2_Silent_p.P127P	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1060	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGTGCCCAACTCTTCTC	0.512000										HNSCC(15;0.026)			4	51					0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40855215	40855215	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:40855215T>A	ENST00000558750.1	-	2	226	c.27A>T	c.(25-27)caA>caT	p.Q9H	C15orf57_ENST00000416810.2_5'UTR|C15orf57_ENST00000358005.3_5'UTR|C15orf57_ENST00000560305.1_5'UTR|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000559911.1_5'UTR|C15orf57_ENST00000558871.1_5'UTR|C15orf57_ENST00000558113.1_5'UTR|C15orf57_ENST00000561011.1_5'UTR			Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						ACATTTTCATTTGGAATCTGA	0.438000													24	54					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165514004	165514004	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:165514004C>T	ENST00000294818.1	+	1	761	c.471C>T	c.(469-471)ctC>ctT	p.L157L	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	157						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCTGGACCTCAGAAATACCG	0.522000													12	118					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570892	198570892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:198570892G>T	ENST00000282276.6	+	1	806	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	255					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CGACCTGTCCGTGTCTCGCAG	0.602000													28	50					2.87052e-16	3.83117e-16	1	1	0
INTS4	92105	broad.mit.edu	37	11	77705651	77705651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:77705651G>C	ENST00000534064.1	-	1	73	c.39C>G	c.(37-39)ttC>ttG	p.F13L	INTS4_ENST00000529807.1_Missense_Mutation_p.F13L|INTS4_ENST00000527522.1_Missense_Mutation_p.F13L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	13					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCACTTTCGTGAATTCCTCAT	0.582000													12	86					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13109986	13109986	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:13109986C>A	ENST00000319217.7	-	45	6154	c.5907G>T	c.(5905-5907)ggG>ggT	p.G1969G	MPDZ_ENST00000381022.2_Silent_p.G1940G|MPDZ_ENST00000541718.1_Silent_p.G1940G|MPDZ_ENST00000541093.1_Silent_p.G203G|MPDZ_ENST00000381015.4_Silent_p.G1969G|MPDZ_ENST00000538841.1_Silent_p.G828G|MPDZ_ENST00000546205.1_Silent_p.G1983G|MPDZ_ENST00000447879.1_Silent_p.G1936G|MPDZ_ENST00000536827.1_Silent_p.G1907G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1969					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGACGTCAGCCCAGTGAAAG	0.458000													5	13					0.000602214	0.00065078	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58207158	58207158	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr13:58207158G>T	ENST00000377918.3	+	1	504	c.478G>T	c.(478-480)Gac>Tac	p.D160Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	160	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACATGACCCCGACGCCGGCGA	0.657000													7	11					0.307466	0.307466	1	1	0
PCDHA12	56137	broad.mit.edu	37	5	140256768	140256768	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:140256768G>A	ENST00000398631.2	+	1	1711	c.1711G>A	c.(1711-1713)Ggc>Agc	p.G571S	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCCGGCTGGCAGCGCAGG	0.697000													19	76					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14848862	14848862	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:14848862C>T	ENST00000358984.4	+	34	3152	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1076										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTGTCAGAAGCGAAAGAAATA	0.328000													3	5					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033961	110033961	+	Silent	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:110033961A>G	ENST00000369870.3	+	10	1791	c.1776A>G	c.(1774-1776)aaA>aaG	p.K592K	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	592										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCACTGGAAAAGGGAAACCCT	0.597000													3	60					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463530	61463530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:61463530G>A	ENST00000398019.2	+	5	692	c.367G>A	c.(367-369)Gat>Aat	p.D123N	SERPINB7_ENST00000336429.2_Missense_Mutation_p.D123N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D123N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D106N	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	123					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAAATTATACGATGCCAAAGT	0.318000													4	10					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135211746	135211746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:135211746C>A	ENST00000372169.2	-	6	837	c.655G>T	c.(655-657)Ggt>Tgt	p.G219C	SETX_ENST00000224140.5_Missense_Mutation_p.G219C|SETX_ENST00000393220.1_Missense_Mutation_p.G219C			Q7Z333	SETX_HUMAN	senataxin	219					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCAGTTTACCCTTCTCTAGG	0.338000													10	26					9.31168e-06	1.06829e-05	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99771530	99771530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:99771530G>A	ENST00000370185.3	+	7	1753	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	LPPR4_ENST00000457765.1_Missense_Mutation_p.R361Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.R261Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		419							phosphatidate phosphatase activity	p.R419Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCTTGCCGCGAGCCAATACC	0.498000													5	45					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140563	178140563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:178140563C>A	ENST00000335815.2	-	5	513	c.316G>T	c.(316-318)Gga>Tga	p.G106*		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	106					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AGTATCAGTCCCTGAAATGAA	0.353000													6	39					0.0477658	0.0493874	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41004595	41004595	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:41004595G>T	ENST00000399564.4	-	37	4497	c.4047C>A	c.(4045-4047)atC>atA	p.I1349I	MROH2B_ENST00000506092.2_Silent_p.I904I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGCCTCTGATGATAGATTCTA	0.423000													21	13					2.27731e-05	2.58609e-05	1	1	0
CDH9	1007	broad.mit.edu	37	5	26906068	26906068	+	Splice_Site	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:26906068T>A	ENST00000231021.4	-	5	983	c.811_splice	c.e5+1	p.S271_splice		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	271	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						CATTTCTTACTCTGGGGAAAT	0.433000													42	144					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65055233	65055233	+	Silent	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:65055233A>T	ENST00000265465.3	+	11	1584	c.1053A>T	c.(1051-1053)acA>acT	p.T351T	POLA2_ENST00000541089.1_Silent_p.T143T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	351					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CATACACCACATCTGACAGCA	0.493000													6	50					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900672	202900672	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:202900672C>T	ENST00000286201.1	+	1	1363	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	434					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCTACCTCTTCATAGGCACGT	0.612000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	40					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41870191	41870191	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:41870191C>T	ENST00000263798.3	+	19	2614	c.2390C>T	c.(2389-2391)tCt>tTt	p.S797F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S752F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	797						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCTGTGCTATCTGCCAGCCAG	0.587000													6	27					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216764	134216764	+	Silent	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:134216764A>G	ENST00000359579.4	+	3	659	c.339A>G	c.(337-339)ccA>ccG	p.P113P	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	113					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TTCACTGGCCACAGGGATTCA	0.507000													5	78					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985347	60985347	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:60985347G>A	ENST00000398117.1	-	1	2014	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	BCL2_ENST00000444484.1_Silent_p.L185L|BCL2_ENST00000589955.1_Silent_p.L185L|BCL2_ENST00000333681.4_Silent_p.L185L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	185					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CAGGTGTGCAGGTGCCGGTTC	0.612000			T	IGH@	"""NHL, CLL"""								9	36					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5044417	5044417	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:5044417G>T	ENST00000381652.3	+	5	859	c.365G>T	c.(364-366)cGt>cTt	p.R122L	JAK2_ENST00000539801.1_Missense_Mutation_p.R122L|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	122	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TACTTTCCTCGTTGGTATTGC	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				15	40					4.14922e-12	5.28512e-12	1	1	0
ARAF	369	broad.mit.edu	37	X	47426121	47426121	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:47426121C>G	ENST00000377045.4	+	7	835	c.641C>G	c.(640-642)tCc>tGc	p.S214C	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													6	5					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671916	44671916	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:44671916C>A	ENST00000454036.1	+	9	1336	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.T397T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	420					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567000													105	206					7.47599e-62	1.04789e-61	1	1	0
R3HDM2	22864	broad.mit.edu	37	12	57648586	57648586	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:57648586C>A	ENST00000402412.1	-	24	3333	c.2943G>T	c.(2941-2943)ctG>ctT	p.L981L	R3HDM2_ENST00000403821.2_Silent_p.L1001L|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000393811.2_Silent_p.L694L|R3HDM2_ENST00000441731.2_Silent_p.L662L|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_Silent_p.L967L|R3HDM2_ENST00000347140.3_Silent_p.L967L			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	967						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGGATCCTCAGGTCATAGT	0.557000													5	29					0.00198382	0.00211649	1	1	0
PSG8	440533	broad.mit.edu	37	19	43262416	43262416	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:43262416G>A	ENST00000404209.4	-	3	543	c.447C>T	c.(445-447)ccC>ccT	p.P149P	PSG8_ENST00000306511.4_Silent_p.P149P|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.P27P	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	149	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGGAGATGGAGGGCTTGGGAG	0.517000													50	69					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129290552	129290552	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:129290552G>C	ENST00000393239.1	-	16	3391	c.3213C>G	c.(3211-3213)atC>atG	p.I1071M	PLXND1_ENST00000324093.4_Missense_Mutation_p.I1071M			Q9Y4D7	PLXD1_HUMAN	plexin D1	1071	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGATGGCCGTGATGACCGGGT	0.667000													5	84					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131130783	131130783	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:131130783G>C	ENST00000357668.1	-	18	1773	c.1746C>G	c.(1744-1746)gtC>gtG	p.V582V	ASAP1_ENST00000518721.1_Silent_p.V582V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	582					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTCTGCATAGACTTGAATTA	0.398000													34	37					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	154780	154780	+	RNA	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:154780G>T	ENST00000510175.1	+	0	215							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATACCAAAAGGACATGAGAAA	0.338000													5	20					2.0095e-06	2.32935e-06	1	1	0
CCDC18	343099	broad.mit.edu	37	1	93687224	93687224	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:93687224C>T	ENST00000343253.7	+	15	2520	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	CCDC18_ENST00000338949.4_Missense_Mutation_p.S429F|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.S792F|CCDC18_ENST00000401026.3_Missense_Mutation_p.S674F|CCDC18_ENST00000421014.2_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	673										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGACTATGTCCATGTTGCAA	0.303000													23	66					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98412587	98412587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:98412587C>A	ENST00000339364.5	-	4	699	c.580G>T	c.(580-582)Gtc>Ttc	p.V194F	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.V16F	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	194	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATAACATAGACAGTGGTTTCT	0.547000													27	68					3.1745e-13	4.10601e-13	1	1	0
FAM89A	375061	broad.mit.edu	37	1	231155691	231155691	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:231155691C>T	ENST00000366654.4	-	2	507	c.473G>A	c.(472-474)aGg>aAg	p.R158K	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	158										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCGGTCCCTCCTGTCGTGCAG	0.592000													17	48					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89088169	89088169	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:89088169G>T	ENST00000535633.1	-	13	1416	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	NOX4_ENST00000375979.3_Missense_Mutation_p.S86Y|NOX4_ENST00000532825.1_Missense_Mutation_p.S369Y|NOX4_ENST00000527626.1_Missense_Mutation_p.S227Y|NOX4_ENST00000424319.1_Missense_Mutation_p.S369Y|NOX4_ENST00000531342.1_Missense_Mutation_p.S86Y|NOX4_ENST00000527956.1_Missense_Mutation_p.S369Y|NOX4_ENST00000263317.4_Missense_Mutation_p.S393Y|NOX4_ENST00000528341.1_Missense_Mutation_p.S368Y|NOX4_ENST00000534731.1_Missense_Mutation_p.S393Y|NOX4_ENST00000413594.2_Missense_Mutation_p.S414Y|NOX4_ENST00000542487.1_Missense_Mutation_p.S369Y|NOX4_ENST00000343727.5_Missense_Mutation_p.S369Y|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	393	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAGAATTTCGGAGTCTTGACT	0.368000													5	12					0.00198382	0.00211649	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76482781	76482781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:76482781C>A	ENST00000307431.8	+	7	1242	c.857C>A	c.(856-858)aCa>aAa	p.T286K	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T262K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T286K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T290K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	287	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTCAACTTCACAGTGGACGAA	0.458000													4	17					0.000602214	0.00065078	1	1	0
RNASE3	6037	broad.mit.edu	37	14	21359990	21359990	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:21359990C>G	ENST00000304639.3	+	2	203	c.145C>G	c.(145-147)Cga>Gga	p.R49G		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	49					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GAACCCCCCTCGATGCACCAT	0.478000													5	91					0	0	1	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712542	22712542	+	RNA	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr22:22712542C>G	ENST00000390294.2	+	0	341																											CCCTGGCCATCAGTGGGCTCC	0.597000													68	96					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7568679	7568679	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:7568679G>A	ENST00000379802.3	+	11	1617	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	DSP_ENST00000418664.2_Missense_Mutation_p.E426K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	426	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAAGAACGAGAGAAAATCCT	0.383000													3	46					0	0	1	0	0
ELOF1	84337	broad.mit.edu	37	19	11665067	11665067	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:11665067C>T	ENST00000586683.1	-	2	153	c.96G>A	c.(94-96)gaG>gaA	p.E32E	ELOF1_ENST00000590700.1_Silent_p.E32E|ELOF1_ENST00000589171.1_Silent_p.E32E|ELOF1_ENST00000252445.3_Silent_p.E32E|ELOF1_ENST00000587806.1_Silent_p.E53E|ELOF1_ENST00000591912.1_Silent_p.E32E|ELOF1_ENST00000591674.1_Silent_p.E39E|ELOF1_ENST00000586120.1_Silent_p.E32E			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			endometrium(3)|lung(2)	5						CACAGGATTTCTCGTGGTTGC	0.577000													20	66					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862882	10862882	+	RNA	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:10862882C>A	ENST00000559480.1	+	0	178																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GCACCAGGTCCATGCACAAGG	0.562000													24	126					2.61193e-14	3.40466e-14	1	1	0
FAM129C	199786	broad.mit.edu	37	19	17644449	17644449	+	Silent	SNP	G	G	T	rs140293166	by1000genomes	TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:17644449G>T	ENST00000335393.4	+	5	597	c.459G>T	c.(457-459)acG>acT	p.T153T	FAM129C_ENST00000595684.1_Silent_p.T153T|FAM129C_ENST00000332386.5_Silent_p.T153T|FAM129C_ENST00000300971.2_Silent_p.T153T|FAM129C_ENST00000352727.3_Silent_p.T153T|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Silent_p.T122T|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Silent_p.T122T|FAM129C_ENST00000600871.1_Silent_p.T99T|FAM129C_ENST00000601861.1_Silent_p.T122T	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	153										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAGGATACACGCTCCTGACTT	0.552000													12	33					0.000422831	0.000462904	1	1	0
GPR115	221393	broad.mit.edu	37	6	47675035	47675035	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:47675035C>A	ENST00000283303.2	+	2	312	c.54C>A	c.(52-54)tcC>tcA	p.S18S	GPR115_ENST00000371220.1_Intron|GPR115_ENST00000327753.3_Silent_p.S18S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	18					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTTTCTGTCCACAGAATGTT	0.423000													13	47					4.35082e-09	5.26182e-09	1	1	0
LRRC8C	84230	broad.mit.edu	37	1	90179620	90179620	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:90179620C>T	ENST00000370454.4	+	3	1746	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	497						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AGGTCTTGAGCGTCAAGTTTG	0.488000													5	17					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962335	17962335	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:17962335C>T	ENST00000381254.2	+	14	2070	c.1856C>T	c.(1855-1857)tCa>tTa	p.S619L	GEN1_ENST00000317402.7_Missense_Mutation_p.S619L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	619					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAGAGCTATCAGCCATCCCT	0.373000								Homologous recombination					9	26					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33960945	33960945	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr22:33960945C>A	ENST00000354992.2	-	7	1247	c.676G>T	c.(676-678)Gtc>Ttc	p.V226F	LARGE_ENST00000402320.1_Missense_Mutation_p.V226F|LARGE_ENST00000452586.2_Missense_Mutation_p.V25F|LARGE_ENST00000437602.2_Missense_Mutation_p.V226F|LARGE_ENST00000337431.2_Missense_Mutation_p.V226F|LARGE_ENST00000397394.2_Missense_Mutation_p.V226F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	226					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGGTCAGGACAAGCTTCATC	0.483000													22	42					1.87028e-06	2.1755e-06	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32647853	32647853	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr22:32647853G>T	ENST00000266086.4	-	3	227	c.216C>A	c.(214-216)gcC>gcA	p.A72A	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	72					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAAGAGAGAGGCGCCCATCT	0.502000													27	21					1.06801e-11	1.34505e-11	1	1	0
TDRD6	221400	broad.mit.edu	37	6	46659781	46659781	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:46659781A>T	ENST00000544460.1	+	1	4170	c.3916A>T	c.(3916-3918)Aaa>Taa	p.K1306*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.K1306*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1306					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCCTGGATTTAAAACAACTGT	0.323000													8	10					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736233	179736233	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:179736233G>A	ENST00000420890.2	-	14	2243	c.2126C>T	c.(2125-2127)tCt>tTt	p.S709F	CCDC141_ENST00000295723.5_Missense_Mutation_p.S134F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	134							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTCAAGTGCAGACACAGGCAT	0.403000													6	77					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742929	49742929	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:49742929G>T	ENST00000549441.2	+	3	1478	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	DNAJC22_ENST00000395069.3_Missense_Mutation_p.G92C			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	92					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CATCTATTTTGGCCTTGTGGC	0.567000													30	71					9.78485e-24	1.34894e-23	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51902313	51902313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:51902313G>T	ENST00000268919.4	+	1	2075	c.1919G>T	c.(1918-1920)cGg>cTg	p.R640L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	640					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCATTGCCCGGTCTTTGTCC	0.443000													19	28					1.22574e-08	1.46129e-08	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99662622	99662622	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:99662622G>T	ENST00000373034.4	-	1	2649	c.974C>A	c.(973-975)tCc>tAc	p.S325Y	PCDH19_ENST00000420881.2_Missense_Mutation_p.S325Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.S325Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	325	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCCGGGATGGAATTGGGCCC	0.587000													3	32					0.115264	0.117724	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608347	84608347	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:84608347C>A	ENST00000344803.2	+	4	3009	c.2962C>A	c.(2962-2964)Cct>Act	p.P988T		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCGTCCTCACCCTGTCTCCTC	0.498000													34	100					1.26612e-14	1.65683e-14	1	1	0
KIAA0895	23366	broad.mit.edu	37	7	36396957	36396957	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:36396957G>A	ENST00000317020.6	-	2	568	c.268C>T	c.(268-270)Cct>Tct	p.P90S	KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.P128S|KIAA0895_ENST00000338533.5_Missense_Mutation_p.P128S|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000297063.6_Missense_Mutation_p.P141S|KIAA0895_ENST00000440378.1_Missense_Mutation_p.P90S|KIAA0895_ENST00000480192.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	141										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGTGTTAGGAGATTTGCTG	0.463000													13	14					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358060	66358060	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:66358060C>T	ENST00000333861.3	-	1	2494	c.2427G>A	c.(2425-2427)atG>atA	p.M809I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	809										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGTCACTCTTCATCTTGTCCA	0.537000													5	248					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650057	232650057	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:232650057T>A	ENST00000366630.1	-	2	1387	c.1029A>T	c.(1027-1029)gaA>gaT	p.E343D	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E343D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	343					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAGCCATGGCTTCGTTGATAT	0.507000													7	66					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131072883	131072883	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:131072883T>C	ENST00000357668.1	-	27	3161	c.3134A>G	c.(3133-3135)aAc>aGc	p.N1045S	ASAP1_ENST00000518721.1_Missense_Mutation_p.N1045S			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1045					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CGTGAGGTCGTTGGAGTCTTC	0.537000													42	73					0	0	1	0	0
PCNP	57092	broad.mit.edu	37	3	101311480	101311480	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:101311480A>G	ENST00000296024.5	+	4	384	c.364A>G	c.(364-366)Aac>Gac	p.N122D	PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000469941.1_Silent_p.P17P|PCNP_ENST00000265260.3_Silent_p.P140P			Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	0					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GGGATACACCAACATCAGCTG	0.338000													13	29					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101818923	101818923	+	RNA	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:101818923T>A	ENST00000360035.2	+	0	1207					NR_002216.1															endometrium(2)|lung(8)	10						GAGCTATGGCTGGAAGGGAAC	0.557000													4	10					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15511564	15511564	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:15511564G>A	ENST00000341776.2	+	13	3128	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N	JARID2_ENST00000397311.3_Missense_Mutation_p.D790N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	962	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGCTGGAAGATGTGGTCCA	0.567000													12	95					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175698	143175698	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:143175698C>G	ENST00000408916.1	+	1	733	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	245					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTTTATGCTCTGTCCTTTCT	0.502000													6	57					0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44589361	44589361	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:44589361C>T	ENST00000291554.2	+	1	244	c.152C>T	c.(151-153)tCc>tTc	p.S51F	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	51					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TACCGCCAGTCCCTCTTCCGC	0.632000													9	177					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12209788	12209788	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:12209788G>A	ENST00000491614.1	-	10	968	c.573C>T	c.(571-573)ctC>ctT	p.L191L	SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000378937.3_Silent_p.L204L|NUDT5_ENST00000378952.3_5'UTR|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000537776.1_Silent_p.L191L			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	191	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CGTCCACTGTGAGATGTTCTT	0.423000													8	70					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3730746	3730746	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:3730746C>T	ENST00000254963.2	+	11	1318	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	HSPA12B_ENST00000542646.1_Silent_p.F225F	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	391							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCATCGCCTTCGAGGCTCGCA	0.627000													3	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061942	9061942	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:9061942G>C	ENST00000397910.4	-	3	25707	c.25504C>G	c.(25504-25506)Cct>Gct	p.P8502A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8504	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGCCCCAGGAGAACCTGTC	0.488000													25	122					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287921	202287921	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:202287921C>T	ENST00000367278.3	+	18	2579	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	LGR6_ENST00000439764.2_Silent_p.F691F|LGR6_ENST00000255432.7_Silent_p.F778F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	830						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACCTGCTCTTCAACCCCCACT	0.677000													25	224					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113907459	113907459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr13:113907459C>T	ENST00000451881.1	+	16	1651	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	CUL4A_ENST00000375440.4_Nonsense_Mutation_p.Q568*|CUL4A_ENST00000326335.4_Nonsense_Mutation_p.Q468*|CUL4A_ENST00000375441.3_Nonsense_Mutation_p.Q468*	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	568					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCGAAAACTTCAGTGGCAAAC	0.313000													14	42					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682585	100682585	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:100682585G>A	ENST00000306151.4	+	3	7952	c.7888G>A	c.(7888-7890)Gaa>Aaa	p.E2630K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2630	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGTAAGTAC	0.458000													24	195					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94807657	94807657	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:94807657G>T	ENST00000453321.3	+	17	1753	c.1695G>T	c.(1693-1695)gtG>gtT	p.V565V	TMEM67_ENST00000409623.3_Silent_p.V484V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	565					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AATTCTTGGTGTACTATGCTG	0.343000													27	67					2.09667e-21	2.87862e-21	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1261984	1261984	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:1261984C>T	ENST00000348261.5	+	25	4853	c.4605C>T	c.(4603-4605)ttC>ttT	p.F1535F	CACNA1H_ENST00000358590.4_Silent_p.F1535F|CACNA1H_ENST00000565831.1_Silent_p.F1535F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1535					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGTACTTCATCTCCTTCC	0.642000													13	228					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320897	52320897	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:52320897C>A	ENST00000356297.4	-	17	3387	c.3287G>T	c.(3286-3288)gGg>gTg	p.G1096V	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1096V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1096					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGGTCTATCCCACCTTCCTT	0.547000													11	30					1.41608e-15	1.86034e-15	1	1	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650815	146650815	+	RNA	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:146650815G>C	ENST00000607149.1	+	0	350																											AGAGAGCAATGATGGGCCTGT	0.428000													6	56					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40070111	40070111	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:40070111T>C	ENST00000352035.2	-	2	146	c.16A>G	c.(16-18)Att>Gtt	p.I6V	ACLY_ENST00000393896.2_Missense_Mutation_p.I6V|ACLY_ENST00000537919.1_Missense_Mutation_p.I6V|ACLY_ENST00000353196.1_Missense_Mutation_p.I6V|ACLY_ENST00000590151.1_Missense_Mutation_p.I6V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	6					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGCTCTGAAATTGCCTTGGCC	0.547000													14	127					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42228409	42228409	+	Silent	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:42228409A>G	ENST00000319977.4	+	4	1542	c.1305A>G	c.(1303-1305)acA>acG	p.T435T	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Silent_p.T435T	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	435										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AATTCCAGACAGAGGTAACTT	0.502000													7	18					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249397	7249397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:7249397C>A	ENST00000266542.4	-	6	1146	c.1054G>T	c.(1054-1056)Ggc>Tgc	p.G352C	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	352	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACGTTGGGGCCCAGGGGGATG	0.612000													4	31					0.000602214	0.00065078	1	1	0
CTPS2	56474	broad.mit.edu	37	X	16717203	16717203	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:16717203G>C	ENST00000443824.1	-	3	923	c.180C>G	c.(178-180)gtC>gtG	p.V60V	CTPS2_ENST00000359276.4_Silent_p.V60V|CTPS2_ENST00000380241.3_Silent_p.V60V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	60					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CATCATTTAAGACGAAGACTT	0.313000													22	16					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228401921	228401921	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:228401921C>T	ENST00000570156.2	+	4	1379	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G435G|OBSCN_ENST00000284548.11_Silent_p.G435G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	435	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGCGTGGGCGACACGGCTA	0.711000													11	119					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(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						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			7	178					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036931	75036931	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:75036931G>T	ENST00000326665.5	-	14	4681	c.4463C>A	c.(4462-4464)cCg>cAg	p.P1488Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1488	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAGACTCTCCGGACTCAATTC	0.537000													26	85					5.77227e-19	7.8927e-19	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55700715	55700715	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:55700715A>G	ENST00000373965.2	-	25	3558	c.3164T>C	c.(3163-3165)cTt>cCt	p.L1055P	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1011P|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1026P|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1048P|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1048P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1048P|PCDH15_ENST00000437009.1_Missense_Mutation_p.L977P|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1048P|PCDH15_ENST00000409834.1_Missense_Mutation_p.L659P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.L1053P|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1055P|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1048	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGCAAGTTCACTTAC	0.363000										HNSCC(58;0.16)			15	22					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150643967	150643967	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:150643967G>C	ENST00000392968.2	-	12	4160	c.3040C>G	c.(3040-3042)Cag>Gag	p.Q1014E	KCNH2_ENST00000262186.5_Missense_Mutation_p.Q1110E|KCNH2_ENST00000330883.4_Missense_Mutation_p.Q770E			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1110					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GAGCTTACCTGAGAAAGCGAG	0.642000													7	64					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344587	23344587	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:23344587G>A	ENST00000359591.4	+	5	1121	c.430G>A	c.(430-432)Gag>Aag	p.E144K	LRP10_ENST00000546834.1_Missense_Mutation_p.E144K	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	144	LDL-receptor class A 1.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCTGCAGGAAGAGTTTCAGTG	0.577000													13	72					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35289601	35289601	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:35289601A>T	ENST00000408931.3	-	2	868	c.342T>A	c.(340-342)caT>caA	p.H114Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	114						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGCCCAGCTCATGGAATTTGT	0.582000													16	63					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621498	56621498	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:56621498C>G	ENST00000321691.3	-	1	231	c.50G>C	c.(49-51)aGa>aCa	p.R17T	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	17										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAGACCCTCTCTGTGCTGA	0.517000													14	94					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28128693	28128693	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:28128693G>A	ENST00000304658.5	-	15	2450	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	XPO6_ENST00000565698.1_Silent_p.F636F	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	650					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAGTGTCACGAACTGCTGCG	0.502000													15	107					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489280	74489280	+	Silent	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:74489280T>C	ENST00000394019.2	-	11	1192	c.795A>G	c.(793-795)gcA>gcG	p.A265A	SLC4A5_ENST00000423644.1_Silent_p.A265A|SLC4A5_ENST00000377632.1_Silent_p.A265A|SLC4A5_ENST00000377634.4_Silent_p.A265A|SLC4A5_ENST00000359484.4_Silent_p.A201A|SLC4A5_ENST00000358683.4_Silent_p.A201A|SLC4A5_ENST00000357822.5_Silent_p.A265A|SLC4A5_ENST00000346834.4_Silent_p.A265A|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	265						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTCCGTAATTTGCACTCTGCC	0.602000													13	38					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129291746	129291746	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:129291746G>C	ENST00000393239.1	-	14	3054	c.2876C>G	c.(2875-2877)tCa>tGa	p.S959*	PLXND1_ENST00000324093.4_Nonsense_Mutation_p.S959*			Q9Y4D7	PLXD1_HUMAN	plexin D1	959	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CACCACACCTGAGAGTGGTCC	0.682000													4	32					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49815691	49815691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:49815691C>A	ENST00000340652.3	+	2	1216	c.660C>A	c.(658-660)ttC>ttA	p.F220L		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	220	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						ACTGCGAGTTCCGGGGCAAGA	0.627000													3	7					0.00909568	0.00949238	1	1	0
GPRC6A	222545	broad.mit.edu	37	6	117113821	117113821	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:117113821C>G	ENST00000310357.3	-	6	2286	c.2265G>C	c.(2263-2265)atG>atC	p.M755I	GPRC6A_ENST00000530250.1_Missense_Mutation_p.M580I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.M684I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	755					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTAGCCCAGCATGGTGCCAA	0.448000													9	20					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777588	237777588	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:237777588G>A	ENST00000366574.2	+	37	5477	c.5160G>A	c.(5158-5160)atG>atA	p.M1720I	RYR2_ENST00000360064.6_Missense_Mutation_p.M1718I|RYR2_ENST00000542537.1_Missense_Mutation_p.M1704I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1720	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGGCTCATGATGAACAACG	0.522000													7	35					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100723039	100723039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:100723039G>T	ENST00000360820.2	+	13	2140	c.1703G>T	c.(1702-1704)gGa>gTa	p.G568V		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	568					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGCTGGCCGGAAAAGTGTTG	0.333000													17	26					3.8784e-16	5.15581e-16	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17464292	17464292	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:17464292G>C	ENST00000302539.4	-	10	1730	c.1605C>G	c.(1603-1605)gcC>gcG	p.A535A	ABCC8_ENST00000389817.3_Silent_p.A535A|ABCC8_ENST00000528202.1_5'UTR	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	535	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGGCAAAGGCCCTGAGGC	0.607000													4	44					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934284	44934284	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:44934284C>G	ENST00000291187.4	-	6	976	c.654G>C	c.(652-654)tgG>tgC	p.W218C	ZNF229_ENST00000588931.1_Missense_Mutation_p.W224C|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W224*(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACAAGATATCCAGCAAAAGC	0.388000													35	24					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49253877	49253877	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:49253877C>A	ENST00000310160.3	-	4	1636	c.662G>T	c.(661-663)cGt>cTt	p.R221L		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		ATAGTCCCCACGGCGCACGTG	0.687000													26	41					1.06801e-11	1.34505e-11	1	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217281011	217281011	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:217281011G>A	ENST00000357276.4	+	4	1173	c.843G>A	c.(841-843)atG>atA	p.M281I	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.M281I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	281	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACTTCAGCATGAATGACTATA	0.438000									Schimke Immuno-Osseous Dysplasia				8	95					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959092	78959092	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:78959092A>G	ENST00000370756.3	+	2	901	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	PTGFR_ENST00000370758.1_Missense_Mutation_p.I222V|PTGFR_ENST00000370757.3_Missense_Mutation_p.I222V	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	222					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GTGCAATGCAATCACAGGAAT	0.383000													9	16					0	0	1	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80383466	80383466	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:80383466C>A	ENST00000369838.4	+	2	360	c.181C>A	c.(181-183)Cag>Aag	p.Q61K		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	61						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GAAACCCACTCAGGGCAACCC	0.458000													7	68					0.00307968	0.00325455	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039084	11039084	+	RNA	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:11039084T>A	ENST00000470054.1	-	0	1119									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)		ATCTTCTTTCTGTTCCTTTTC	0.408000													17	174					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844488	77844488	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:77844488G>A	ENST00000216471.4	+	1	1013	c.727G>A	c.(727-729)Gag>Aag	p.E243K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	243										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACTCCAGAGGAGACACAAAG	0.468000													7	23					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031096	87031096	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:87031096G>A	ENST00000370563.3	+	5	739	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	CLCA4_ENST00000263723.5_Intron	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	233						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGTACAAACAGAAAAAGCATC	0.318000													4	60					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127632	3127632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:3127632C>T	ENST00000380266.3	-	2	2406	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	695					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CAGCCAGCTTCATTCTTGGGG	0.557000													6	73					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435910	158435910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:158435910C>A	ENST00000289451.2	+	1	639	c.559C>A	c.(559-561)Ctg>Atg	p.L187M		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGTCCTTAAACTGGCATCTCA	0.507000													104	131					9.26604e-42	1.28802e-41	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123625181	123625181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:123625181G>T	ENST00000327930.2	-	1	72	c.46C>A	c.(46-48)Cct>Act	p.P16T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGATAACAGGAAAGCCTAGC	0.433000													12	70					2.62699e-14	3.41101e-14	1	1	0
NBEA	26960	broad.mit.edu	37	13	35615154	35615154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr13:35615154C>A	ENST00000540320.1	+	2	913	c.379C>A	c.(379-381)Cac>Aac	p.H127N	NBEA_ENST00000400445.3_Missense_Mutation_p.H127N|NBEA_ENST00000379939.2_Missense_Mutation_p.H127N|NBEA_ENST00000310336.4_Missense_Mutation_p.H127N			Q8NFP9	NBEA_HUMAN	neurobeachin	127						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTTTTGGAGCACTGTGATGT	0.393000													22	47					1.66031e-10	2.03737e-10	1	1	0
AHR	196	broad.mit.edu	37	7	17369593	17369593	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:17369593G>C	ENST00000242057.4	+	5	1111	c.468G>C	c.(466-468)caG>caC	p.Q156H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	156	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCATACATCAGAGTGTATATG	0.348000													4	13					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124914503	124914503	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:124914503C>T	ENST00000368865.4	+	2	279	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	BUB3_ENST00000368859.2_Missense_Mutation_p.P24S|BUB3_ENST00000538238.1_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.P24S	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	24					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GAAGTTCAGCCCCAACACCTC	0.612000													26	108					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788652	113788652	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:113788652C>A	ENST00000259213.4	-	3	201	c.94G>T	c.(94-96)Gct>Tct	p.A32S	IL36B_ENST00000327407.2_Missense_Mutation_p.A32S	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	32					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CTAAGAGGAGCTGCTATTAAA	0.493000													15	40					6.49762e-13	8.37193e-13	1	1	0
SMYD4	114826	broad.mit.edu	37	17	1686381	1686381	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:1686381T>C	ENST00000305513.7	-	10	2376	c.2209A>G	c.(2209-2211)Agt>Ggt	p.S737G		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	737							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ATTTCAACACTGGACGGCCCG	0.517000													13	23					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18689962	18689962	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:18689962T>C	ENST00000377315.4	+	1	221	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000396576.2_Intron	NM_201570.2	NP_963864.1	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	0					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTCTGGCTCATGAAGGCCACC	0.577000													3	31					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19349097	19349097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:19349097C>A	ENST00000252575.5	+	11	3329	c.3286C>A	c.(3286-3288)Cag>Aag	p.Q1096K	NCAN_ENST00000538881.1_Missense_Mutation_p.Q547K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1096	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCATAAGTTCCAGGGCCACTG	0.657000													29	45					5.52252e-06	6.37946e-06	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50463829	50463829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:50463829G>A	ENST00000447370.2	-	2	530	c.440C>T	c.(439-441)gCg>gTg	p.A147V	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A147V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	147					cell adhesion	integral to membrane	sugar binding	p.A135V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TAGAAAGAACGCATTGCTCAG	0.562000													8	38					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018598	88018598	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:88018598C>A	ENST00000504921.2	-	10	1917	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D	MEF2C_ENST00000506554.1_Missense_Mutation_p.R391M|MEF2C_ENST00000514015.1_Missense_Mutation_p.E383D|MEF2C_ENST00000539796.1_Missense_Mutation_p.E359D|MEF2C_ENST00000340208.5_Missense_Mutation_p.E425D|MEF2C_ENST00000437473.2_Missense_Mutation_p.E415D|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514028.1_Missense_Mutation_p.E415D|MEF2C_ENST00000510942.1_Missense_Mutation_p.E407D|MEF2C_ENST00000424173.2_Missense_Mutation_p.E405D|MEF2C_ENST00000508569.1_Missense_Mutation_p.E375D			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	415					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCTCCCCGCCTCGTGGCGCG	0.562000										HNSCC(66;0.2)			14	40					3.45872e-05	3.90125e-05	1	1	0
CIAO1	9391	broad.mit.edu	37	2	96934240	96934240	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:96934240G>A	ENST00000488633.1	+	5	754	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	179					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						GCTGTACCGGGAGGAAGAGGA	0.562000													5	89					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	17					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005381	25005381	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:25005381G>A	ENST00000382114.4	-	8	1515	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	444			R -> Q (in dbSNP:rs2232026).			extracellular region		p.R444R(1)|p.R444M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CTCATGACCCGGGAGTCCCCG	0.522000													27	231					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38658928	38658928	+	RNA	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:38658928A>T	ENST00000494540.1	+	0	772					NR_003086.1																						ATAATGGAACAGAAGCTCTGG	0.328000													3	16					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546591	9546591	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:9546591C>T	ENST00000378429.3	-	6	1977	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	PAK7_ENST00000353224.5_Silent_p.V477V|PAK7_ENST00000378423.1_Silent_p.V477V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	477	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			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)			CCATTTTCTTCACTGCAACTT	0.458000													11	117					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081891	54081891	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:54081891C>T	ENST00000394705.2	-	2	273	c.3G>A	c.(1-3)atG>atA	p.M1I	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	1						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTGTTGAGTTCATTTTCGGAG	0.522000													19	107					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80041265	80041265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:80041265C>A	ENST00000306749.2	-	32	5596	c.5378G>T	c.(5377-5379)gGg>gTg	p.G1793V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1793	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGTAGGACCCCGTGGAATGT	0.647000													10	21					9.31168e-06	1.06829e-05	1	1	0
CLVS1	157807	broad.mit.edu	37	8	62371093	62371093	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:62371093G>T	ENST00000519846.1	+	6	1441	c.969G>T	c.(967-969)ctG>ctT	p.L323L	CLVS1_ENST00000325897.4_Silent_p.L323L|CLVS1_ENST00000518592.1_Silent_p.L44L			Q8IUQ0	CLVS1_HUMAN	clavesin 1	323					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACCCAAGCTGATGAAAAGGT	0.433000													5	8					1.26484e-09	1.54081e-09	1	1	0
SNAI2	6591	broad.mit.edu	37	8	49832849	49832849	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:49832849G>A	ENST00000396822.1	-	3	588	c.231C>T	c.(229-231)tcC>tcT	p.S77S	SNAI2_ENST00000020945.1_Silent_p.S77S			O43623	SNAI2_HUMAN	snail family zinc finger 2	77					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGGAGTATCCGGAAAGAGGAG	0.567000													6	66					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27457389	27457389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:27457389G>A	ENST00000264705.4	+	23	3784	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N	CAD_ENST00000403525.1_Missense_Mutation_p.D1145N	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1208	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCCCCAGGATGACCAGCTGAA	0.557000													4	159					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096797	143096797	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:143096797C>A	ENST00000275815.3	-	4	868	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACAGTGGCACCGTCCTACAGG	0.657000													16	52					3.57192e-18	4.84451e-18	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70493864	70493864	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:70493864A>G	ENST00000310961.5	+	19	2124	c.1706A>G	c.(1705-1707)aAc>aGc	p.N569S	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.N564S|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	564						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTTGAAATAAACCTAAAACGA	0.328000													3	40					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755179	76755179	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:76755179T>C	ENST00000536229.3	+	2	3282	c.2573T>C	c.(2572-2574)aTg>aCg	p.M858T	SALL3_ENST00000537592.2_Missense_Mutation_p.M1063T|SALL3_ENST00000575389.2_Missense_Mutation_p.M991T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1063					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATGATCAAAATGGAAGTGAAC	0.632000													10	26					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47039904	47039904	+	Splice_Site	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:47039904A>T	ENST00000377604.3	+	12	1989	c.1248_splice	c.e12+1	p.Q416_splice	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site_p.Q339_splice|RBM10_ENST00000329236.7_Splice_Site_p.Q338_splice	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	416					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCCATCTCACAGGTACTCAGA	0.602000													5	8					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10902949	10902949	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:10902949G>A	ENST00000283141.6	+	7	802	c.506G>A	c.(505-507)gGa>gAa	p.G169E	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.G10E	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	169						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTTAGCTTAGGATTCCTGGTG	0.358000													11	19					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932777	32932777	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:32932777G>A	ENST00000383763.4	+	4	2144	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	694					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGAGAAAGGAACCAAGAAT	0.537000													4	20					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								7	29					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90130098	90130098	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:90130098C>A	ENST00000449207.2	-	5	449	c.430G>T	c.(430-432)Gac>Tac	p.D144Y	PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	144						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCTCTGAGTCACTTGTATTC	0.423000													15	20					3.51602e-12	4.51289e-12	1	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40652901	40652901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:40652901C>T	ENST00000343619.4	+	16	1979	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S619F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S626F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S265F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S619F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S576F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S576F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	619					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCCTCTTTTCCTACCCAGAG	0.428000													4	130					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140811715	140811715	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:140811715C>G	ENST00000371372.1	+	6	943	c.798C>G	c.(796-798)ttC>ttG	p.F266L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.F266L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F266L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F266L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F266L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	266					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGGTGACTTCCCCTGTGGCA	0.587000													9	33					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684763	100684763	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:100684763G>A	ENST00000306151.4	+	3	10130	c.10066G>A	c.(10066-10068)Gag>Aag	p.E3356K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3356	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAGCAC	0.483000													13	315					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109614007	109614007	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:109614007G>A	ENST00000338432.7	+	9	1495	c.1376G>A	c.(1375-1377)gGc>gAc	p.G459D	ACACB_ENST00000377854.5_Missense_Mutation_p.G459D|ACACB_ENST00000377848.3_Missense_Mutation_p.G459D|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	459	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCTGAAGGTGGCGGAGGGAAG	0.493000													70	132					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18929019	18929019	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:18929019C>T	ENST00000380534.4	-	4	735	c.456G>A	c.(454-456)gaG>gaA	p.E152E	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	152										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GACGAAGTGGCTCTCGCCTTG	0.423000													7	42					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14768449	14768449	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:14768449G>C	ENST00000253697.3	+	11	2060	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	C3orf20_ENST00000412910.1_Missense_Mutation_p.K414N|C3orf20_ENST00000435614.1_Missense_Mutation_p.K414N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	536						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGGTGTATAAGATGAGCCGAG	0.537000													5	45					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66509083	66509083	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr4:66509083C>G	ENST00000273854.3	-	2	844	c.244G>C	c.(244-246)Ggg>Cgg	p.G82R	EPHA5_ENST00000432638.2_Missense_Mutation_p.G82R|EPHA5_ENST00000511294.1_Missense_Mutation_p.G82R|EPHA5_ENST00000354839.4_Missense_Mutation_p.G82R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	82					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAACTTACCCCATTTTTTGGA	0.343000										TSP Lung(17;0.13)			6	20					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746552	94746552	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:94746552T>G	ENST00000399300.2	-	3	2300	c.2087A>C	c.(2086-2088)gAg>gCg	p.E696A	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	696							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GAAGTCATCCTCGGGTGGTCG	0.627000													46	142					0	0	1	0	0
RAP1B	5908	broad.mit.edu	37	12	69050962	69050962	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:69050962C>T	ENST00000250559.9	+	7	781	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	RAP1B_ENST00000542145.1_Missense_Mutation_p.L137F|RAP1B_ENST00000539091.1_Missense_Mutation_p.L142F|RAP1B_ENST00000537460.1_Missense_Mutation_p.L184F|RAP1B_ENST00000543697.1_Missense_Mutation_p.L136F|RAP1B_ENST00000543393.1_Missense_Mutation_p.L118F|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Missense_Mutation_p.L142F|RAP1B_ENST00000393436.5_Missense_Mutation_p.L184F|RAP1B_ENST00000378985.3_Missense_Mutation_p.L118F|RAP1B_ENST00000341355.5_Missense_Mutation_p.L184F|RAP1B_ENST00000540209.1_Missense_Mutation_p.L165F	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	184					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ATGTCAGCTGCTTTAATATAC	0.383000													21	30					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096474	107096474	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:107096474A>T	ENST00000261058.1	+	1	287	c.40A>T	c.(40-42)Agg>Tgg	p.R14W		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	14										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGCTGCTGCTAGGCAGATGTG	0.408000													14	54					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69962837	69962837	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:69962837T>A	ENST00000299293.2	+	6	537	c.27T>A	c.(25-27)gaT>gaA	p.D9E	FRS2_ENST00000549921.1_Missense_Mutation_p.D9E|FRS2_ENST00000397997.2_Missense_Mutation_p.D9E|FRS2_ENST00000550389.1_Missense_Mutation_p.D9E	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	9					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTGTCCAGATAAAGACACTG	0.363000													9	22					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902974	129902974	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:129902974C>T	ENST00000368654.3	-	13	7505	c.7130G>A	c.(7129-7131)aGg>aAg	p.R2377K	MKI67_ENST00000368653.3_Missense_Mutation_p.R2017K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2377	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTTCGTTTCCTGAGTGCTAA	0.473000													58	167					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176300975	176300975	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:176300975C>G	ENST00000329542.4	+	7	1167	c.893C>G	c.(892-894)tCt>tGt	p.S298C	UNC5A_ENST00000261961.3_Missense_Mutation_p.S258C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	298					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			GCAGCTGCTTCTGGCCCTGAG	0.627000													8	46					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470721	10470721	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:10470721G>A	ENST00000382483.3	-	4	1110	c.887C>T	c.(886-888)aCg>aTg	p.T296M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	296					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGAGCTGGCGTGTCCTGAGG	0.657000													14	45					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999577	100999577	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:100999577C>A	ENST00000325455.5	-	1	1678	c.225G>T	c.(223-225)caG>caT	p.Q75H	PGR_ENST00000263463.5_Missense_Mutation_p.Q75H|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	75	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ACTGCTGGTCCTGCGTCTTTT	0.612000													8	19					0.000274275	0.000302244	1	1	0
KCNJ8	3764	broad.mit.edu	37	12	21919149	21919149	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:21919149C>T	ENST00000240662.2	-	3	1128	c.783G>A	c.(781-783)ctG>ctA	p.L261L	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	261						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AAGGGGCCACCAGAAAAATGT	0.478000													7	9					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184024551	184024551	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:184024551C>T	ENST00000310118.4	+	16	2521	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L525L|PSMD2_ENST00000435761.1_Silent_p.L496L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	655					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGTGGCTGTTCTGGGGATTGC	0.443000													36	82					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35799660	35799660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:35799660C>T	ENST00000342694.2	+	3	1174	c.919C>T	c.(919-921)Cag>Tag	p.Q307*		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	307					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCTGAGTATCAGGAATTCCA	0.507000													13	61					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71144669	71144669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:71144669G>A	ENST00000448642.2	+	17	2331	c.1942G>A	c.(1942-1944)Gcg>Acg	p.A648T	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.A617T|HK1_ENST00000360289.2_Missense_Mutation_p.A601T|HK1_ENST00000359426.6_Missense_Mutation_p.A613T|HK1_ENST00000298649.3_Missense_Mutation_p.A612T			P19367	HXK1_HUMAN	hexokinase 1	613	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAGTCTGGACGCGGTGAGTCT	0.592000													4	75					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139107068	139107068	+	Missense_Mutation	SNP	G	G	C	rs145333884		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:139107068G>C	ENST00000358701.5	-	10	1329	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	431	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TTTCCAGAGAGAACACGGGTA	0.488000													4	27					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51829575	51829575	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:51829575C>G	ENST00000371733.3	-	23	2418	c.2322G>C	c.(2320-2322)aaG>aaC	p.K774N	EPS15_ENST00000371730.2_Missense_Mutation_p.K640N|EPS15_ENST00000396122.4_Missense_Mutation_p.K451N	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	774	15 X 3 AA repeats of D-P-F.|Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GAGTTCCGATCTTTGGTGGCA	0.448000			T	MLL	ALL								6	53					0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959123	43959123	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:43959123C>T	ENST00000372733.3	-	4	367	c.328G>A	c.(328-330)Gag>Aag	p.E110K	SDC4_ENST00000537976.1_Missense_Mutation_p.E38K	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	110						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	p.L106fs*35(1)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GGGATAACCTCATTCTCCTCT	0.532000			T	ROS1	NSCLC								12	25					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42841831	42841831	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:42841831G>A	ENST00000307602.4	+	15	1625	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	475					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGAGAATAAGATGTTAAAGC	0.343000			T	RET	papillary thyroid								4	34					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137172408	137172408	+	Missense_Mutation	SNP	C	C	A	rs148779791		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:137172408C>A	ENST00000453654.1	-	23	1969	c.1430G>T	c.(1429-1431)cGt>cTt	p.R477L	DGKI_ENST00000446122.1_Missense_Mutation_p.R759L|DGKI_ENST00000424189.2_Missense_Mutation_p.R780L|DGKI_ENST00000288490.5_Missense_Mutation_p.R777L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	777	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACAGTCTCCACGCACAACTAG	0.368000													39	109					1.83081e-24	2.53438e-24	1	1	0
TMEM169	92691	broad.mit.edu	37	2	216965204	216965204	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:216965204A>G	ENST00000454545.1	+	4	1159	c.833A>G	c.(832-834)aAt>aGt	p.N278S	TMEM169_ENST00000295658.4_Missense_Mutation_p.N278S|TMEM169_ENST00000437356.2_Missense_Mutation_p.N278S|TMEM169_ENST00000406027.2_Missense_Mutation_p.N278S	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	278						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATCCGACAATATCTCAAGC	0.542000													12	36					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116919926	116919926	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:116919926G>T	ENST00000355044.3	+	6	1081	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L	ATRNL1_ENST00000527407.1_Missense_Mutation_p.V319L|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	319						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTTATGTGGGTGATTGGTGG	0.368000													19	67					1.40151e-16	1.87802e-16	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30873179	30873179	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:30873179C>T	ENST00000383096.3	-	12	1302	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CCDC178_ENST00000300227.8_Missense_Mutation_p.E374K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E374K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E374K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E374K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E374K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E374K					coiled-coil domain containing 178																		CTTATTGCTTCAGTCACTTCC	0.279000													8	22					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89885504	89885504	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:89885504C>A	ENST00000534061.1	+	6	878	c.648C>A	c.(646-648)atC>atA	p.I216I	NAALAD2_ENST00000375944.3_Silent_p.I216I|NAALAD2_ENST00000321955.4_Silent_p.I216I|NAALAD2_ENST00000525171.1_Silent_p.I216I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	216					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAGGAATCATCTTGTACTCAG	0.438000													6	34					0.00307968	0.00325455	1	1	0
THBS2	7058	broad.mit.edu	37	6	169620303	169620303	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:169620303G>A	ENST00000366787.3	-	22	3750	c.3501C>T	c.(3499-3501)taC>taT	p.Y1167Y	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1167	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTCTGCATTCGTACTTGAGGT	0.512000													59	58					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182249	120182249	+	Silent	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chrX:120182249T>C	ENST00000328078.1	+	1	788	c.711T>C	c.(709-711)gcT>gcC	p.A237A		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	237					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCTGGATTGCTGATACCTATG	0.517000													26	23					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19050308	19050308	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:19050308C>T	ENST00000380527.1	+	1	937	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	217					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TTTCCCACTACCAGTGCAAAG	0.478000													8	76					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5468684	5468684	+	Splice_Site	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:5468684G>T	ENST00000355029.4	+	2	337	c.195_splice	c.e2+1	p.L65_splice	NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	65	Necessary for nuclear localization (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ACTTCACTTTGGTGAGTAGAT	0.403000													13	31					1.37285e-15	1.81065e-15	1	1	0
PER3	8863	broad.mit.edu	37	1	7880542	7880542	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:7880542C>T	ENST00000377532.3	+	15	2023	c.1799C>T	c.(1798-1800)cCa>cTa	p.P600L	PER3_ENST00000361923.2_Missense_Mutation_p.P592L|RP3-467L1.4_ENST00000451646.1_RNA			P56645	PER3_HUMAN	period circadian clock 3	592	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAAATCCCAGCCATACCT	0.458000													5	14					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105194595	105194595	+	Silent	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:105194595A>T	ENST00000369797.3	+	25	3802	c.3708A>T	c.(3706-3708)cgA>cgT	p.R1236R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1236	S1 motif 11.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCATGGGCCGAGTGGTGAAGG	0.537000													4	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069683	9069683	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:9069683C>T	ENST00000397910.4	-	3	17966	c.17763G>A	c.(17761-17763)gtG>gtA	p.V5921V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5923	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTTCTTCCACAGAGGGAG	0.498000													12	23					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827742	182827742	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:182827742C>G	ENST00000367549.3	+	9	977	c.867C>G	c.(865-867)atC>atG	p.I289M		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	289	Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGCAAAACATCATTCAAGAGC	0.373000													6	43					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688659	55688659	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:55688659G>A	ENST00000358433.2	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCAACGTAGCGGTCATAGGAC	0.393000													10	16					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356780	42356780	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:42356780A>C	ENST00000554171.1	+	5	3384	c.952A>C	c.(952-954)Att>Ctt	p.I318L	LRFN5_ENST00000554120.1_Missense_Mutation_p.I318L|LRFN5_ENST00000298119.4_Missense_Mutation_p.I318L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	318	Ig-like.					integral to membrane				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)		TGAGCCTGCAATTCACTGGAT	0.463000										HNSCC(30;0.082)			4	104					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492237	20492237	+	Silent	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:20492237A>T	ENST00000573854.1	+	12	1617	c.1503A>T	c.(1501-1503)cgA>cgT	p.R501R	ACSM2A_ENST00000417235.2_Silent_p.R422R|ACSM2A_ENST00000575690.1_Silent_p.R501R|ACSM2A_ENST00000396104.2_Silent_p.R501R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.R273R|ACSM2A_ENST00000219054.6_Silent_p.R501R	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	501					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACCCCGTCCGAGGAGAGGTGA	0.562000													12	32					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9074263	9074263	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:9074263G>C	ENST00000433083.2	+	4	407	c.262G>C	c.(262-264)Gct>Cct	p.A88P	PHC1_ENST00000544916.1_Missense_Mutation_p.A125P|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.A125P			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	125					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTCTCCCAGTGCTACCACCTT	0.567000													4	40					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855433	31855433	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:31855433C>T	ENST00000395728.3	-	14	2102	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R	EHMT2_ENST00000375530.4_Silent_p.R610R|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.R644R|EHMT2_ENST00000375528.4_Silent_p.R667R			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	644					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGCTTCTTCCGCCTGCCAA	0.612000													5	80					0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64850855	64850855	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:64850855G>A	ENST00000275517.3	-	4	396	c.224C>T	c.(223-225)tCa>tTa	p.S75L	CDCA5_ENST00000404147.3_Missense_Mutation_p.S75L	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	75					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGCGAGGTGATTGGACAGC	0.507000													4	45					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769700	247769700	+	Silent	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:247769700G>A	ENST00000320002.2	+	1	845	c.813G>A	c.(811-813)ggG>ggA	p.G271G	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGACCAAGGGAAGTTTATCT	0.453000													19	21					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785492	24785492	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:24785492G>T	ENST00000396789.4	+	2	2360	c.635G>T	c.(634-636)cGc>cTc	p.R212L	LTB4R_ENST00000396782.2_Missense_Mutation_p.R212L|LTB4R_ENST00000345363.3_Missense_Mutation_p.R212L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CAGGCCCGGCGCTTCCGCCGC	0.672000													4	14					0.150653	0.152015	1	1	0
FAM129C	199786	broad.mit.edu	37	19	17650003	17650003	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:17650003G>T	ENST00000335393.4	+	7	871	c.733G>T	c.(733-735)Gcc>Tcc	p.A245S	FAM129C_ENST00000595684.1_Missense_Mutation_p.A245S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A245S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A245S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A245S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A214S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.A214S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A191S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A214S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	245										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTCCTGGACGCCGTCCGACT	0.697000													5	6					3.59834e-05	4.04511e-05	1	1	0
C6	729	broad.mit.edu	37	5	41176734	41176734	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:41176734G>C	ENST00000263413.3	-	8	1275	c.1011C>G	c.(1009-1011)gtC>gtG	p.V337V	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.V337V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTCAAAAAGACATCAGAAA	0.383000													6	66					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565305	125565305	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:125565305C>T	ENST00000518547.1	-	14	2669	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	MTSS1_ENST00000431961.2_Silent_p.L450L|MTSS1_ENST00000395508.2_Silent_p.L506L|MTSS1_ENST00000354184.4_Silent_p.L450L|MTSS1_ENST00000325064.5_Silent_p.L736L|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Silent_p.L622L|MTSS1_ENST00000378017.3_Silent_p.L707L|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	732	WH2.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATGGCGTTCAGCATGTCTT	0.562000													11	149					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730906	21730906	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:21730906G>C	ENST00000584755.1	+	2	605	c.208G>C	c.(208-210)Gtc>Ctc	p.V70L	UBBP4_ENST00000578713.1_Missense_Mutation_p.V70L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCTGCATCTGGTCCTGCGTCG	0.552000													16	40					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21327175	21327175	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:21327175G>A	ENST00000377191.3	+	17	1747	c.1652G>A	c.(1651-1653)aGa>aAa	p.R551K	XRN2_ENST00000430571.2_Missense_Mutation_p.R475K|XRN2_ENST00000539513.1_Missense_Mutation_p.R497K	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	551					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGGTTCTTAGATATTATTAC	0.323000													15	60					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136708	40136708	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:40136708T>A	ENST00000278198.2	-	2	3098	c.1135A>T	c.(1135-1137)Aca>Tca	p.T379S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T379S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T379S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T379S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	379	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCAGGGATGTGGAGGCCCGA	0.502000													17	62					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270789	97270789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:97270789G>A	ENST00000523821.1	-	2	249	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.Q44*			Q96E29	MTER1_HUMAN	MTERF domain containing 1	44					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			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)					ATCTGAGGCTGAGCAGAAAAG	0.423000													8	93					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885719	25885719	+	Splice_Site	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:25885719G>A	ENST00000376351.3	+	10	2504		c.e10+1		GPR158_ENST00000490549.1_Splice_Site	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158							integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGACATTCGGGTAATGCCAGT	0.483000													12	66					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45868857	45868857	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:45868857C>G	ENST00000296135.6	-	9	1046	c.872G>C	c.(871-873)aGa>aCa	p.R291T	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Missense_Mutation_p.R274T	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	291										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTGTGCCAGTCTTTTCCTCAG	0.403000													5	45					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927139	23927139	+	Missense_Mutation	SNP	T	T	G	rs1852431		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:23927139T>G	ENST00000402377.3	-	4	1354	c.1213A>C	c.(1213-1215)Aag>Cag	p.K405Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTTGTTAAAAGCT	0.403000													3	59					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119738458	119738458	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:119738458G>T	ENST00000313400.4	-	9	1786	c.1686C>A	c.(1684-1686)ccC>ccA	p.P562P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.P511P|ASTN2_ENST00000373996.3_Silent_p.P562P			O75129	ASTN2_HUMAN	astrotactin 2	562						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGTCGTGTAGGGCCAAGGTC	0.493000													3	19					0.004672	0.00490633	1	1	0
TRIM31	11074	broad.mit.edu	37	6	30078327	30078327	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:30078327C>T	ENST00000376734.3	-	4	767	c.642G>A	c.(640-642)ggG>ggA	p.G214G	TRIM31_ENST00000540829.1_Silent_p.G214G|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'UTR	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	214						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CATAGTGTTTCCCCGCTTCCG	0.512000													10	112					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224083	42224083	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:42224083C>T	ENST00000221992.6	+	7	1841	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S576L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S575L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	576	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ATCCAGAACTCAGTGAGTGCA	0.517000													11	139					0	0	1	0	0
TYROBP	7305	broad.mit.edu	37	19	36398370	36398370	+	Silent	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:36398370A>T	ENST00000585901.2	-	3	225	c.207T>A	c.(205-207)ccT>ccA	p.P69P	TYROBP_ENST00000424586.3_Silent_p.P58P|TYROBP_ENST00000262629.4_Silent_p.P69P|TYROBP_ENST00000589517.1_Silent_p.P69P|TYROBP_ENST00000544690.2_Silent_p.P58P			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	69					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGCCCCCGAGGGACCAGCC	0.662000													25	86					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130291	151130291	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:151130291C>T	ENST00000367328.1	+	9	1275	c.963C>T	c.(961-963)taC>taT	p.Y321Y	PLEKHG1_ENST00000358517.2_Silent_p.Y321Y	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	321	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGACCAGCTACGGGGAACTGG	0.557000													9	49					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377476	125377476	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr9:125377476C>A	ENST00000297913.2	+	1	529	c.460C>A	c.(460-462)Ctt>Att	p.L154I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TCTCTCCCACCTTCATGCCAT	0.478000													24	68					9.04412e-07	1.05567e-06	1	1	0
MTSS1	9788	broad.mit.edu	37	8	125565318	125565318	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr8:125565318C>T	ENST00000518547.1	-	14	2656	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E	MTSS1_ENST00000431961.2_Missense_Mutation_p.G446E|MTSS1_ENST00000395508.2_Missense_Mutation_p.G502E|MTSS1_ENST00000354184.4_Missense_Mutation_p.G446E|MTSS1_ENST00000325064.5_Missense_Mutation_p.G732E|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.G618E|MTSS1_ENST00000378017.3_Missense_Mutation_p.G703E|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	728	WH2.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CATGTCTTCTCCTTGTGGAGT	0.557000													11	168					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754648	140754648	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:140754648T>A	ENST00000517434.1	+	1	998	c.998T>A	c.(997-999)gTc>gAc	p.V333D	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGAAAGTCTTAATAACT	0.433000													48	103					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496746	9496746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr20:9496746C>A	ENST00000246070.2	+	3	829	c.337C>A	c.(337-339)Cgc>Agc	p.R113S	LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	113						integral to membrane											CTGGGTGGATCGCGCATATGC	0.622000													7	17					3.09899e-07	3.65549e-07	1	1	0
NAV3	89795	broad.mit.edu	37	12	78388619	78388619	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr12:78388619T>A	ENST00000397909.2	+	6	881	c.708T>A	c.(706-708)agT>agA	p.S236R	NAV3_ENST00000228327.6_Missense_Mutation_p.S236R|NAV3_ENST00000266692.7_Missense_Mutation_p.S236R|NAV3_ENST00000536525.2_Missense_Mutation_p.S236R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	236						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAATCACAGTGGAATTGCAA	0.348000										HNSCC(70;0.22)			12	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422610	179422610	+	Silent	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:179422610G>C	ENST00000589042.1	-	328	87695	c.87471C>G	c.(87469-87471)ctC>ctG	p.L29157L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L27516L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.L20092L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L26589L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L20217L|TTN_ENST00000342175.6_Silent_p.L20284L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27516	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCCCATTTGAGAGTCACAC	0.428000													12	128					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182787814	182787814	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:182787814G>T	ENST00000367554.3	+	7	857	c.539G>T	c.(538-540)gGg>gTg	p.G180V	NPL_ENST00000367555.1_Missense_Mutation_p.G199V|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.G199V|NPL_ENST00000367553.1_Missense_Mutation_p.G199V|NPL_ENST00000258317.2_Missense_Mutation_p.G199V	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	199					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TTCCTTTTTGGGGTGGATGAG	0.448000													11	29					0.00010058	0.00011157	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55110797	55110797	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:55110797C>A	ENST00000314721.2	+	1	171	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGTGGGAAACCTCCTCATTTG	0.428000													13	58					1.5739e-10	1.93844e-10	1	1	0
MAP2K3	5606	broad.mit.edu	37	17	21217498	21217498	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:21217498G>A	ENST00000342679.4	+	12	1249	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	MAP2K3_ENST00000361818.5_Missense_Mutation_p.D305N|MAP2K3_ENST00000316920.6_Missense_Mutation_p.D305N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	334					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGAAGACGGACATTGCTGC	0.627000													57	387					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49815692	49815692	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:49815692C>A	ENST00000340652.3	+	2	1217	c.661C>A	c.(661-663)Cgg>Agg	p.R221R		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	221	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CTGCGAGTTCCGGGGCAAGAC	0.627000													3	7					0.00909568	0.00949238	1	1	0
NET1	10276	broad.mit.edu	37	10	5468685	5468685	+	Splice_Site	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:5468685G>T	ENST00000355029.4	+	2	337		c.e2+1		NET1_ENST00000542715.1_Splice_Site	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTCACTTTGGTGAGTAGATA	0.403000													13	30					1.37285e-15	1.81065e-15	1	1	0
TCF3	6929	broad.mit.edu	37	19	1612270	1612270	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:1612270C>A	ENST00000344749.5	-	18	1815	c.1749G>T	c.(1747-1749)caG>caT	p.Q583H	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.Q583H|TCF3_ENST00000453954.2_Missense_Mutation_p.Q498H	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN	transcription factor 3	586	Helix-loop-helix motif.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTTGGTCTGCGCTTTGT	0.667000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								13	45					4.14922e-12	5.28512e-12	1	1	0
MYPN	84665	broad.mit.edu	37	10	69961617	69961617	+	Silent	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:69961617G>T	ENST00000358913.5	+	18	4013	c.3525G>T	c.(3523-3525)ctG>ctT	p.L1175L	MYPN_ENST00000354393.2_Silent_p.L900L|MYPN_ENST00000540630.1_Silent_p.L1175L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1175	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			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						CTGTGATCCTGGAGAAACTAC	0.483000													16	43					5.35267e-07	6.29173e-07	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38658918	38658918	+	RNA	SNP	A	A	G			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:38658918A>G	ENST00000494540.1	+	0	762					NR_003086.1																						TTGACACCATATAATGGAACA	0.318000													3	15					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43529807	43529807	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr21:43529807A>T	ENST00000400427.1	+	10	1835	c.1439A>T	c.(1438-1440)gAg>gTg	p.E480V	UMODL1_ENST00000400424.1_Missense_Mutation_p.E480V|UMODL1_ENST00000408989.2_Missense_Mutation_p.E552V|UMODL1_ENST00000408910.2_Missense_Mutation_p.E552V	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	552	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CGGGCCTGTGAGGGTACGTGT	0.677000													15	23					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30974034	30974034	+	Silent	SNP	A	A	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:30974034A>T	ENST00000597505.1	-	19	2672	c.2673T>A	c.(2671-2673)ctT>ctA	p.L891L	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000339794.5_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACATGTAGGTAAGCTTGTTCC	0.423000													5	16					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206324	6206324	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:6206324G>A	ENST00000262450.3	-	11	1849	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	584					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGCCATAGCGGTAGAAGCGC	0.607000													16	42					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549755	167549755	+	Missense_Mutation	SNP	G	G	T	rs145768514		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr6:167549755G>T	ENST00000341935.5	+	3	589	c.37G>T	c.(37-39)Gac>Tac	p.D13Y	CCR6_ENST00000400926.2_Missense_Mutation_p.D13Y|CCR6_ENST00000349984.4_Missense_Mutation_p.D13Y	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	13					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CGATGTTTTCGACTCCAGTGA	0.413000													39	49					9.84934e-19	1.34127e-18	1	1	0
MYNN	55892	broad.mit.edu	37	3	169501310	169501310	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:169501310C>T	ENST00000349841.5	+	6	2108	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	MYNN_ENST00000392733.1_Missense_Mutation_p.S482F|MYNN_ENST00000544106.1_Missense_Mutation_p.S482F|MYNN_ENST00000356716.4_Missense_Mutation_p.S482F	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	482						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGTTTTATTTCCTCAGGAGAG	0.328000													22	68					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103043	113103043	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr11:113103043G>C	ENST00000316851.7	+	10	1362	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N	NCAM1_ENST00000401611.2_Missense_Mutation_p.K463N|NCAM1_ENST00000533760.1_Missense_Mutation_p.K336N|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	464	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAATATCAAGATCTACAACA	0.527000													10	51					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242690756	242690756	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:242690756G>A	ENST00000321264.4	+	8	1302	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	D2HGDH_ENST00000486953.1_Intron|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G231S	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	365					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTGGGCTCCGGCCTGGTGAC	0.622000													3	33					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30194845	30194845	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:30194845C>T	ENST00000331968.5	-	2	529	c.300G>A	c.(298-300)aaG>aaA	p.K100K	PRKD1_ENST00000415220.2_Silent_p.K100K	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	100					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAAGCAGGATCTTATCATACA	0.393000													16	73					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785493	24785493	+	Silent	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr14:24785493C>T	ENST00000396789.4	+	2	2361	c.636C>T	c.(634-636)cgC>cgT	p.R212R	LTB4R_ENST00000396782.2_Silent_p.R212R|LTB4R_ENST00000345363.3_Silent_p.R212R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		AGGCCCGGCGCTTCCGCCGCA	0.672000													3	14					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435344	104435344	+	RNA	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:104435344C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							CATTTTGGTACCAAGTAGAAT	0.398000													12	19					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56226258	56226258	+	Silent	SNP	C	C	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:56226258C>A	ENST00000262494.7	+	1	371	c.111C>A	c.(109-111)ctC>ctA	p.L37L	GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_Silent_p.L37L	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	37					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGAAATTACTCCTGCTCGGTA	0.662000													5	33					8.12818e-05	9.04632e-05	1	1	0
GNAZ	2781	broad.mit.edu	37	22	23438057	23438057	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr22:23438057G>T	ENST00000248996.4	+	2	841	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	59						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.G59C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CATCCACAGCGGCGGCTTCAA	0.602000													15	124					7.07596e-05	7.90149e-05	1	1	0
WDR33	55339	broad.mit.edu	37	2	128479467	128479467	+	Silent	SNP	T	T	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr2:128479467T>C	ENST00000322313.4	-	15	1772	c.1614A>G	c.(1612-1614)caA>caG	p.Q538Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	538					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CAATTTCTGCTTGTGTTTTTT	0.393000													23	42					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70056701	70056701	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr10:70056701C>T	ENST00000358769.2	-	3	328	c.126G>A	c.(124-126)atG>atA	p.M42I	PBLD_ENST00000277795.4_Missense_Mutation_p.M42I|PBLD_ENST00000432941.1_Missense_Mutation_p.M42I|PBLD_ENST00000309049.4_Missense_Mutation_p.M42I|PBLD_ENST00000336578.1_Missense_Mutation_p.M9I	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	42					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGAGAGGTTCATCTCCCTTG	0.373000													26	65					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216127	140216127	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr5:140216127C>T	ENST00000525929.1	+	1	2159	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGGCGTTGCGGTGC	0.617000													28	45					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100663	184100663	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr3:184100663G>C	ENST00000204604.1	+	9	1248	c.1002G>C	c.(1000-1002)ttG>ttC	p.L334F	CHRD_ENST00000348986.3_Missense_Mutation_p.L334F|CHRD_ENST00000450923.1_Missense_Mutation_p.L334F|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	334	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGTTCCCTTGAGGCTCCAGA	0.577000													4	10					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57073730	57073730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr16:57073730G>A	ENST00000436936.1	+	16	3064	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	NLRC5_ENST00000262510.6_Missense_Mutation_p.E947K|NLRC5_ENST00000308149.7_Missense_Mutation_p.E947K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E947K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	947					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTTGCCCAGGAGCCAGAGGA	0.542000													14	75					0	0	1	0	0
LOC400743	400743	broad.mit.edu	37	1	17518459	17518461	+	RNA	DEL	TCT	TCT	-			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr1:17518459_17518461delTCT	ENST00000412427.1	+	0	148																											ctcttcctcctcttcttcttctt	0.448													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100373314	100373314	+	RNA	DEL	C	C	-			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr7:100373314delC	ENST00000542585.1	+	0	6196				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGTCACCCTCCCCGCCATCT	0.567													8	89	---	---	---	---					
MTMR10	54893	broad.mit.edu	37	15	31253222	31253224	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:31253222_31253224delCCT	ENST00000435680.1	-	7	715_717	c.618_620delAGG	c.(616-621)ggt>gg	p.GG206del	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_In_Frame_Del_p.GG124del|MTMR10_ENST00000425768.1_In_Frame_Del_p.EV176del	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	206	Poly-Gly.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AGCTCCATTAcctcctcctcctc	0.463													4	4	---	---	---	---					
CPLX3	594855	broad.mit.edu	37	15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)del	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616													7	85	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													8	197	---	---	---	---					
PIEZO2	63895	broad.mit.edu	37	18	10681669	10681669	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr18:10681669delA	ENST00000302079.6	-	46	7239	c.7240delT	c.(7240-7242)ctfs	p.S2414fs	PIEZO2_ENST00000580640.1_Frame_Shift_Del_p.S2502fs|PIEZO2_ENST00000285141.4_Frame_Shift_Del_p.S269fs|PIEZO2_ENST00000503781.3_Frame_Shift_Del_p.S2477fs|PIEZO2_ENST00000538948.1_Frame_Shift_Del_p.S434fs			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2477						integral to membrane	ion channel activity										GTGTCCCTAGAAAAAGCTTGT	0.398													25	67	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2333196	2333197	+	RNA	DEL	CT	CT	-	rs34753713		TCGA-55-7727-01A-11D-2167-08	TCGA-55-7727-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4390b89-911b-447e-8b5a-8849274c1691	866211ea-f591-496a-a45b-51b1f3821bf0	g.chr19:2333196_2333197delCT	ENST00000452401.2	+	0	146				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACTAGACTCTGCTGGGAG	0.713													3	3	---	---	---	---					
