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
TENM3	55714	broad.mit.edu	37	4	183714586	183714586	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:183714586C>A	ENST00000511685.1	+	26	6884	c.6761C>A	c.(6760-6762)aCt>aAt	p.T2254N	TENM3_ENST00000406950.2_Missense_Mutation_p.T2254N					teneurin transmembrane protein 3																		GCTGACTTAACTTATCCCACT	0.443000													10	54					0.000442599	0.000464225	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140562409	140562409	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:140562409G>T	ENST00000361016.2	+	1	1430	c.275G>T	c.(274-276)cGa>cTa	p.R92L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTAGATCGAGAGGAGCTA	0.463000													4	72					0.014758	0.0150382	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152605242	152605242	+	Silent	SNP	C	C	T	rs146027815	by1000genomes	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:152605242C>T	ENST00000367255.5	-	96	18679	c.18078G>A	c.(18076-18078)gaG>gaA	p.E6026E	SYNE1_ENST00000341594.5_Silent_p.E5638E|SYNE1_ENST00000448038.1_Silent_p.E5955E|SYNE1_ENST00000356820.4_Silent_p.E550E|SYNE1_ENST00000265368.4_Silent_p.E6026E|SYNE1_ENST00000423061.1_Silent_p.E5955E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6026					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATACCAGCTCCTCTGCGAGAG	0.532000										HNSCC(10;0.0054)			10	62					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441337	140441337	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:140441337T>C	ENST00000406427.1	-	4	554	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	PNPLA7_ENST00000277531.4_Missense_Mutation_p.Y48C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	48					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGGAACCGGTACTGAGGAGT	0.602000													4	125					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41305234	41305234	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr22:41305234A>G	ENST00000357137.4	+	6	1048	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I299V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	322					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TAATCAACTCATCAAGGTACG	0.483000													21	78					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611616	50611616	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:50611616G>A	ENST00000444124.2	-	2	368	c.168C>T	c.(166-168)atC>atT	p.I56I	DDC_ENST00000431062.1_Silent_p.I56I|DDC_ENST00000426377.1_Silent_p.I56I|DDC_ENST00000357936.5_Silent_p.I56I|DDC_ENST00000380984.4_Silent_p.I56I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	56					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CGTCGTTGATGATGTCCTCAA	0.567000													30	117					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104758442	104758442	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:104758442T>G	ENST00000357311.3	-	15	2081	c.1910A>C	c.(1909-1911)aAg>aCg	p.K637T	SRPK2_ENST00000489828.1_Missense_Mutation_p.K637T|SRPK2_ENST00000393651.3_Missense_Mutation_p.K648T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	637	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCTCCAGGGCTTCAGCTTGGT	0.473000													24	55					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271539	65271539	+	RNA	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:65271539A>T	ENST00000534336.1	+	0	6307					NR_002819.2																						AATGTTTTACACTATTGACCT	0.358000													10	22					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37889890	37889890	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:37889890G>T	ENST00000199447.4	+	3	394	c.22G>T	c.(22-24)Gtc>Ttc	p.V8F	NME8_ENST00000440017.1_Missense_Mutation_p.V8F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	8	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAAACGAGAAGTCCAGTTACA	0.333000													33	135					1.36615e-20	1.88798e-20	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912245	150912245	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:150912245G>A	ENST00000329903.4	+	6	1303	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	424					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACAGTGGATGAGCGAGA	0.483000													19	23					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240492415	240492415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:240492415G>C	ENST00000319653.9	+	9	4485	c.4255G>C	c.(4255-4257)Ggc>Cgc	p.G1419R	FMN2_ENST00000545751.1_Missense_Mutation_p.G15R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1419	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAAAGCATGGCCGATCTTC	0.423000													22	68					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32716089	32716089	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:32716089A>T	ENST00000357033.4	-	9	1064	c.858T>A	c.(856-858)taT>taA	p.Y286*	DMD_ENST00000288447.4_Nonsense_Mutation_p.Y278*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Y282*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	286					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTCTCTCATATCCCTGTG	0.507000													9	8					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566638	20566638	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:20566638C>T	ENST00000329697.6	-	4	717	c.549G>A	c.(547-549)gtG>gtA	p.V183V	ACSM2B_ENST00000567001.1_Silent_p.V183V|ACSM2B_ENST00000565232.1_Silent_p.V183V|ACSM2B_ENST00000565322.1_Silent_p.V104V|ACSM2B_ENST00000414188.2_Silent_p.V183V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	183					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTTCTCAGACACCAGTAGCT	0.443000													31	289					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79959942	79959942	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:79959942A>T	ENST00000360280.3	+	52	7433	c.7173A>T	c.(7171-7173)gcA>gcT	p.A2391A	VPS13A_ENST00000357409.5_Silent_p.A2391A|VPS13A_ENST00000376636.3_Silent_p.A2352A|VPS13A_ENST00000376634.4_Silent_p.A2391A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2391					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTATTATAGCAGAAGTGAATT	0.299000													91	162					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683212	113683212	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:113683212C>T	ENST00000003302.4	-	16	1826	c.1758G>A	c.(1756-1758)ttG>ttA	p.L586L	USP28_ENST00000260188.5_Silent_p.L586L|USP28_ENST00000545540.1_Silent_p.L461L|USP28_ENST00000544967.1_Silent_p.L294L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	586					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GAACTGCATGCAAGCGATAAG	0.398000													10	111					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010309	27010309	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:27010309C>T	ENST00000314616.6	+	16	2185	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	SUPT6H_ENST00000347486.4_Silent_p.A634A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	634					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCCACTATGCCTATTCCTTCA	0.517000													21	44					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000386	56000386	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:56000386G>A	ENST00000313264.4	-	1	351	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTGGAGCTGGGAATCCCTAA	0.393000													16	41					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234565013	234565013	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:234565013T>C	ENST00000040877.1	-	17	2928	c.2929A>G	c.(2929-2931)Ata>Gta	p.I977V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	977					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAAGAAGATATAATTTTCCAC	0.328000													26	77					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746762	51746762	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:51746762G>T	ENST00000395052.3	+	3	958	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.G242C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	242					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGAGAAAGTGGGCCGTGCCAT	0.642000													14	24					4.36969e-10	5.25015e-10	1	1	0
TMEM57	55219	broad.mit.edu	37	1	25773365	25773365	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:25773365G>A	ENST00000374343.4	+	2	372	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Missense_Mutation_p.V65I	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	65						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGAAGCGTCTATGATTC	0.443000													4	147					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071032	73071032	+	RNA	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:73071032G>A	ENST00000429829.1	-	0	1556					NR_001564.2																						GGCACTAGGCGGCAAAACCCG	0.517000													51	47					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179311660	179311660	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:179311660T>C	ENST00000476781.1	-	5	455	c.426A>G	c.(424-426)ttA>ttG	p.L142L	MRPL47_ENST00000259038.2_Silent_p.L122L|MRPL47_ENST00000392659.2_Silent_p.L32L	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	142					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CAACTTTATCTAATGCATCCA	0.373000													100	126					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638400	176638400	+	Silent	SNP	C	C	T	rs150854966	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176638400C>T	ENST00000439151.2	+	5	3045	c.3000C>T	c.(2998-3000)tcC>tcT	p.S1000S	NSD1_ENST00000361032.4_Silent_p.S897S|NSD1_ENST00000347982.4_Silent_p.S731S|NSD1_ENST00000354179.4_Silent_p.S731S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1000					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTTACTGTCCGACAAGAGAG	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	188					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703851	69703851	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:69703851C>A	ENST00000370598.1	+	11	2747	c.1926C>A	c.(1924-1926)gtC>gtA	p.V642V		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	642					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGATGGTGTCCAGGTAAGGG	0.483000													17	58					3.57192e-18	4.79233e-18	1	1	0
IGHV3-30	28439	broad.mit.edu	37	14	106791171	106791171	+	RNA	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:106791171T>A	ENST00000390613.2	-	0	264																											CTCCAGCCCCTTGCCTGGAGC	0.547000													54	503					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084378	9084378	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:9084378G>T	ENST00000397910.4	-	1	7640	c.7437C>A	c.(7435-7437)gtC>gtA	p.V2479V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2479	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						TGTCAGTGCTGACCATGGTGC	0.512000											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	71					1.99824e-07	2.26561e-07	1	1	0
CDH5	1003	broad.mit.edu	37	16	66436634	66436634	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:66436634C>A	ENST00000341529.3	+	12	2065	c.1917C>A	c.(1915-1917)caC>caA	p.H639Q	CDH5_ENST00000539168.1_Missense_Mutation_p.H78Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	639					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGGAGATCCACGAGCAGCTGG	0.697000													7	13					1.06961e-07	1.21702e-07	1	1	0
ADGRG1	9289	broad.mit.edu	37	16	57695824	57695824	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:57695824G>T	ENST00000562631.1	+	13	2412	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V	GPR56_ENST00000379694.4_Missense_Mutation_p.G463V|GPR56_ENST00000538815.1_Missense_Mutation_p.G627V|GPR56_ENST00000456916.1_Missense_Mutation_p.G633V|GPR56_ENST00000388812.4_Missense_Mutation_p.G633V|GPR56_ENST00000379696.3_Missense_Mutation_p.G633V|GPR56_ENST00000568908.1_Missense_Mutation_p.G627V|GPR56_ENST00000562558.1_Missense_Mutation_p.G627V|GPR56_ENST00000540164.2_Missense_Mutation_p.G627V|GPR56_ENST00000567835.1_Missense_Mutation_p.G633V|GPR56_ENST00000388813.5_Missense_Mutation_p.G627V|GPR56_ENST00000568909.1_Missense_Mutation_p.G633V|GPR56_ENST00000544297.1_Missense_Mutation_p.G452V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	633					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TTTGCTTCTGGCACCTTCCAG	0.577000													19	65					8.00594e-06	8.79834e-06	1	1	0
LIG3	3980	broad.mit.edu	37	17	33321390	33321390	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:33321390T>G	ENST00000378526.4	+	9	1684	c.1551T>G	c.(1549-1551)caT>caG	p.H517Q	LIG3_ENST00000262327.5_Missense_Mutation_p.H517Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	517					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TCCAGGTGCATAAGAATGGAG	0.527000								Other BER factors					16	61					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530616	20530616	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:20530616G>T	ENST00000504154.1	+	16	1759	c.1507G>T	c.(1507-1509)Gat>Tat	p.D503Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.D495Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D507Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D499Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	503	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGCTTTGCGGATCTGGCTTG	0.398000													12	99					0.010729	0.0110024	1	1	0
ARPC1B	10095	broad.mit.edu	37	7	98988569	98988569	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:98988569G>T	ENST00000451682.1	+	8	863	c.554G>T	c.(553-555)tGg>tTg	p.W185L	ARPC1B_ENST00000252725.5_Missense_Mutation_p.W185L			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	185					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCCACCCCGTGGGGCTCCAAG	0.597000													10	59					3.07112e-06	3.4218e-06	1	1	0
RIF1	55183	broad.mit.edu	37	2	152320477	152320477	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:152320477A>G	ENST00000243326.4	+	29	4926	c.4443A>G	c.(4441-4443)aaA>aaG	p.K1481K	RIF1_ENST00000453091.2_Silent_p.K1481K|RIF1_ENST00000428287.2_Silent_p.K1481K|RIF1_ENST00000430328.2_Silent_p.K1481K|RIF1_ENST00000444746.2_Silent_p.K1481K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1481					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAATTGAGAAAGGAAGTAATT	0.348000													21	83					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442498	37442498	+	Splice_Site	SNP	A	A	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:37442498A>C	ENST00000374660.1	+	13	1638		c.e13-1		ANKRD30A_ENST00000602533.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TACTTTTAACAGAGTCTCTGT	0.279000													13	239					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47637351	47637351	+	Missense_Mutation	SNP	G	G	T	rs63750773		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:47637351G>T	ENST00000406134.1	+	3	547	c.485G>T	c.(484-486)gGa>gTa	p.G162V	MSH2_ENST00000233146.2_Missense_Mutation_p.G162V|MSH2_ENST00000543555.1_Missense_Mutation_p.G96V			P43246	MSH2_HUMAN	mutS homolog 2	162			G -> A (in HNPCC1).|G -> R (in HNPCC1; shows a decreased expression level of the MutS alpha complex and is associated with an abnormal subcellular localization pattern; affects protein stability; associated with an absence of the protein in tumors).		B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACAGGTTGGAGTTGGGTAT	0.438000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				79	260					1.91123e-38	2.79734e-38	1	1	0
GSAP	54103	broad.mit.edu	37	7	77006657	77006657	+	Missense_Mutation	SNP	G	G	T	rs138204887	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:77006657G>T	ENST00000257626.7	-	9	705	c.627C>A	c.(625-627)ttC>ttA	p.F209L		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GAGCCCAAACGAAATCCTCAG	0.303000													24	278					1.77063e-15	2.30827e-15	1	1	0
ATP13A3	79572	broad.mit.edu	37	3	194167833	194167833	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:194167833C>T	ENST00000439040.1	-	14	2111	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	ATP13A3_ENST00000256031.4_Silent_p.G440G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	440					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAATTATGACCCCAACTTGTA	0.368000													19	95					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880551	153880551	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:153880551A>T	ENST00000247306.4	-	2	687	c.624T>A	c.(622-624)ccT>ccA	p.P208P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	208						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTAAATGTGAGGGGCAGAGA	0.592000													28	29					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814394	123814394	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:123814394A>T	ENST00000321252.2	-	1	186	c.152T>A	c.(151-153)aTa>aAa	p.I51K		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCGTTGGTCTATCCAGCTGAG	0.498000													38	103					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436851	248436851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248436851G>A	ENST00000318021.2	-	1	287	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCGGGAGATGGCCTTACTTCC	0.567000													7	256					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892630	88892630	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:88892630T>C	ENST00000556553.1	+	6	890	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	SPATA7_ENST00000356583.5_Missense_Mutation_p.F111L|SPATA7_ENST00000045347.7_Missense_Mutation_p.F143L|SPATA7_ENST00000393545.4_Missense_Mutation_p.F143L			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	143					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATGAATGGATTTTCATCCTT	0.398000													33	78					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208702	58208702	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:58208702C>A	ENST00000377918.3	+	1	2048	c.2022C>A	c.(2020-2022)tcC>tcA	p.S674S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	674	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S674S(1)		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)		CTACCCTGTCCGCAGTGGCCA	0.667000													55	143					1.46357e-32	2.12284e-32	1	1	0
ENAM	10117	broad.mit.edu	37	4	71508279	71508279	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:71508279A>G	ENST00000396073.3	+	9	1417	c.1136A>G	c.(1135-1137)tAt>tGt	p.Y379C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	379					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAGTTTATCACAAAGCT	0.433000													47	144					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472762	66472762	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66472762T>G	ENST00000533211.1	-	15	2316	c.1985A>C	c.(1984-1986)cAc>cCc	p.H662P	SPTBN2_ENST00000529997.1_Missense_Mutation_p.H662P|SPTBN2_ENST00000309996.2_Missense_Mutation_p.H662P			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	662					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCCAGGAGGTGCTGCTGCTC	0.721000													6	22					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618634	31618634	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:31618634G>C	ENST00000225823.2	-	1	1372	c.500C>G	c.(499-501)gCg>gGg	p.A167G	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	129					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AAGCGGGCGCGCGGTGCGGTT	0.701000													5	20					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413000													58	85					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147116	26147116	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:26147116C>T	ENST00000331351.5	+	2	1310	c.918C>T	c.(916-918)ccC>ccT	p.P306P	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	306					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGAAACCCGAGATCCCCA	0.542000													52	151					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684842	80684842	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:80684842C>T	ENST00000269373.6	+	6	798	c.725C>T	c.(724-726)tCg>tTg	p.S242L	FN3KRP_ENST00000535965.1_Missense_Mutation_p.S192L	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	242							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TACGGCCACTCGGAATATGAG	0.552000													37	101					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556869	52556869	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:52556869T>A	ENST00000321725.6	+	62	6899	c.6823T>A	c.(6823-6825)Tgt>Agt	p.C2275S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2275	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGGCGGACTGTGGCAATGG	0.622000													34	64					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:7579373C>A	ENST00000420246.2	-	4	446	c.314G>T	c.(313-315)gGc>gTc	p.G105V	TP53_ENST00000359597.4_Missense_Mutation_p.G105V|TP53_ENST00000445888.2_Missense_Mutation_p.G105V|TP53_ENST00000269305.4_Missense_Mutation_p.G105V|TP53_ENST00000455263.2_Missense_Mutation_p.G105V|TP53_ENST00000413465.2_Missense_Mutation_p.G105V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		ACCGTAGCTGCCCTGGTAGGT	0.622000		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)			17	77					1.02788e-11	1.27791e-11	1	1	0
RP1	6101	broad.mit.edu	37	8	55541215	55541215	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:55541215G>C	ENST00000220676.1	+	4	4921	c.4773G>C	c.(4771-4773)tgG>tgC	p.W1591C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1591					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCTGATTGGTCAGACTATC	0.398000													25	76					0	0	1	0	0
INTS4P2	644619	broad.mit.edu	37	7	65160093	65160093	+	RNA	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:65160093A>T	ENST00000430126.2	+	0	1263																											AGTCTTCAGCACTTGGACCCT	0.507000													24	42					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806861	143806861	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:143806861C>T	ENST00000408979.2	+	1	255	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACTTCTTCCTCTCACACCTGG	0.458000													61	188					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186567895	186567895	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:186567895T>A	ENST00000431808.1	-	11	1174	c.611A>T	c.(610-612)aAa>aTa	p.K204I	SORBS2_ENST00000437304.2_Missense_Mutation_p.K383I|SORBS2_ENST00000355634.5_Missense_Mutation_p.K304I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.K290I|SORBS2_ENST00000449407.2_Missense_Mutation_p.K275I|SORBS2_ENST00000393528.3_Missense_Mutation_p.K250I|SORBS2_ENST00000448662.2_Missense_Mutation_p.K273I|SORBS2_ENST00000418609.1_Missense_Mutation_p.K108I|SORBS2_ENST00000284776.7_Missense_Mutation_p.K204I			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	204						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGACCGAAATTTTCTTGTGTC	0.353000													42	116					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102053067	102053067	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:102053067C>T	ENST00000318222.3	-	10	2111	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	PKD2L1_ENST00000338519.3_Missense_Mutation_p.E502K|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E577K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	577					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGTTGCAGCTCATCCTTCTGT	0.502000													22	96					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77870791	77870791	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:77870791A>G	ENST00000407578.2	-	2	587	c.321T>C	c.(319-321)aaT>aaC	p.N107N	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.N69N|MYCBP2_ENST00000544440.2_Silent_p.N69N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTTCTTCTTATTTAAAATTT	0.269000													7	18					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95221311	95221311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:95221311G>T	ENST00000005178.5	-	6	880	c.683C>A	c.(682-684)aCa>aAa	p.T228K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	228	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTCACTTGTGTAAGCTTTAA	0.289000													44	142					5.20006e-24	7.40894e-24	1	1	0
ZDHHC12	84885	broad.mit.edu	37	9	131483930	131483930	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:131483930C>T	ENST00000372667.5	-	4	553	c.524_splice	c.e4+1	p.W175_splice	ZDHHC12_ENST00000372663.4_Splice_Site_p.W161_splice|ZDHHC12_ENST00000372672.2_Splice_Site_p.W161_splice|ZDHHC12_ENST00000467312.1_5'UTR			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	161						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CAGCACCCACCATGCCAGGTA	0.647000													31	171					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111742075	111742075	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:111742075G>C	ENST00000261726.6	+	10	969	c.815G>C	c.(814-816)aGc>aCc	p.S272T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGTCAACAGCTCCATCCGC	0.652000													5	26					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524474	23524474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:23524474C>T	ENST00000296682.3	+	10	1164	c.982C>T	c.(982-984)Cag>Tag	p.Q328*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	328	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						TGATGAAGAGCAGAACCTGGT	0.527000										HNSCC(3;0.000094)			24	106					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134419	32134419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:32134419C>T	ENST00000312561.4	+	4	944	c.530C>T	c.(529-531)cCt>cTt	p.P177L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACACGACTTCCTGTAGCTTAC	0.423000													22	98					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57695823	57695823	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:57695823G>T	ENST00000562631.1	+	13	2411	c.1879G>T	c.(1879-1881)Ggc>Tgc	p.G627C	GPR56_ENST00000379694.4_Missense_Mutation_p.G463C|GPR56_ENST00000538815.1_Missense_Mutation_p.G627C|GPR56_ENST00000456916.1_Missense_Mutation_p.G633C|GPR56_ENST00000388812.4_Missense_Mutation_p.G633C|GPR56_ENST00000379696.3_Missense_Mutation_p.G633C|GPR56_ENST00000568908.1_Missense_Mutation_p.G627C|GPR56_ENST00000562558.1_Missense_Mutation_p.G627C|GPR56_ENST00000540164.2_Missense_Mutation_p.G627C|GPR56_ENST00000567835.1_Missense_Mutation_p.G633C|GPR56_ENST00000388813.5_Missense_Mutation_p.G627C|GPR56_ENST00000568909.1_Missense_Mutation_p.G633C|GPR56_ENST00000544297.1_Missense_Mutation_p.G452C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	633					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTTTGCTTCTGGCACCTTCCA	0.577000													18	61					7.07596e-05	7.67158e-05	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7528460	7528460	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:7528460G>T	ENST00000313599.3	-	10	2579	c.2522C>A	c.(2521-2523)gCc>gAc	p.A841D	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A851D|CD163L1_ENST00000396630.1_Missense_Mutation_p.A841D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	841	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGAGATATGGCATCTCCACA	0.453000													26	81					9.80776e-20	1.33253e-19	1	1	0
B4GALT1	2683	broad.mit.edu	37	9	33113455	33113455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:33113455G>C	ENST00000379731.4	-	6	1380	c.1194C>G	c.(1192-1194)agC>agG	p.S398R	B4GALT1_ENST00000541851.1_Missense_Mutation_p.S145R|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	398					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CAAAACGCTAGCTCGGTGTCC	0.498000													10	182					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733562	84733562	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:84733562C>A	ENST00000372142.2	+	8	914	c.640C>A	c.(640-642)Cat>Aat	p.H214N	NRG3_ENST00000545131.1_Missense_Mutation_p.H85N|NRG3_ENST00000537893.1_Missense_Mutation_p.H85N|NRG3_ENST00000372141.2_Missense_Mutation_p.H435N|NRG3_ENST00000556918.1_Missense_Mutation_p.H265N|NRG3_ENST00000404547.1_Missense_Mutation_p.H435N|NRG3_ENST00000404576.2_Missense_Mutation_p.H239N	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	435	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGTGGAAAGGCATCCTGTGAC	0.478000													17	60					1.00905e-13	1.28424e-13	1	1	0
ERC2	26059	broad.mit.edu	37	3	56026129	56026129	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:56026129C>G	ENST00000288221.6	-	11	2466	c.2211G>C	c.(2209-2211)gaG>gaC	p.E737D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	737						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTTCTCATTCTCCACCTCCT	0.468000													18	144					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175946	57175946	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:57175946C>A	ENST00000537055.2	-	2	852	c.621G>T	c.(619-621)acG>acT	p.T207T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGTCAGGTGCGTGACGCGCG	0.721000													4	19					0.150653	0.151595	1	1	0
C12orf56	115749	broad.mit.edu	37	12	64678478	64678478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:64678478C>A	ENST00000543942.2	-	8	1902	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Nonsense_Mutation_p.E266*	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	429										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CGTGATGACTCGGTTTCTGTT	0.373000													9	18					5.50884e-06	6.07481e-06	1	1	0
ETV7	51513	broad.mit.edu	37	6	36343668	36343668	+	Missense_Mutation	SNP	C	C	A	rs79496316	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:36343668C>A	ENST00000339796.5	-	3	1132	c.287G>T	c.(286-288)cGg>cTg	p.R96L	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Missense_Mutation_p.R96L|ETV7_ENST00000340181.4_Missense_Mutation_p.R96L	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	96	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CGCACGGTGCCGGAAGTCGTC	0.662000													29	112					7.26314e-15	9.3925e-15	1	1	0
TBC1D2	55357	broad.mit.edu	37	9	100973015	100973015	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:100973015C>T	ENST00000375066.5	-	8	1687	c.1596G>A	c.(1594-1596)ctG>ctA	p.L532L	TBC1D2_ENST00000342112.5_Silent_p.L314L|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.L72L|TBC1D2_ENST00000375064.1_Silent_p.L532L	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	532						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGCTGCCTCAGCAGCTCTG	0.637000													9	12					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530327	80530327	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:80530327G>T	ENST00000295057.3	-	2	1274	c.618C>A	c.(616-618)gcC>gcA	p.A206A	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.A206A|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	206						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TAAACAAGCCGGCGAAAGAGT	0.582000										HNSCC(69;0.2)			25	103					9.80776e-20	1.33253e-19	1	1	0
CTSF	8722	broad.mit.edu	37	11	66332437	66332437	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66332437G>C	ENST00000310325.5	-	9	1195	c.1086C>G	c.(1084-1086)caC>caG	p.H362Q		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	362					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGACTGCATGTGACCCTGGT	0.577000													17	84					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599330	29599330	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:29599330G>A	ENST00000431530.3	+	1	583	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	165						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGGCAAAGACCCTTGACA	0.512000													25	79					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126753414	126753414	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:126753414C>T	ENST00000274473.6	+	11	1482	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	MEGF10_ENST00000503335.2_Silent_p.Y405Y|MEGF10_ENST00000418761.2_Silent_p.Y405Y|MEGF10_ENST00000508365.1_Silent_p.Y405Y	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	405	EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGGATTCTACGGGGAAGCTT	0.542000													71	95					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96688775	96688775	+	Splice_Site	SNP	A	A	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:96688775A>C	ENST00000261211.3	-	10	1601		c.e10+1		CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000553042.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17								ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TACATTCCATACCAAAATCTG	0.358000													27	91					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179153693	179153693	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:179153693A>G	ENST00000247461.4	+	14	1858	c.1658A>G	c.(1657-1659)aAa>aGa	p.K553R	CANX_ENST00000504734.1_Missense_Mutation_p.K553R|CANX_ENST00000452673.2_Missense_Mutation_p.K553R|CANX_ENST00000415618.2_Missense_Mutation_p.K588R|CANX_ENST00000512607.2_Missense_Mutation_p.K445R	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	553					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAAACAGAAAAGTGATGCT	0.363000													3	57					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010432	70010432	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:70010432G>T	ENST00000532298.1	-	7	845	c.846C>A	c.(844-846)tcC>tcA	p.S282S	PDXDC2P_ENST00000531894.1_RNA														p.S282S(2)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TATCATCCACGGAGGGTGGAA	0.493000													3	10					0.115264	0.116348	1	1	0
OR1J4	26219	broad.mit.edu	37	9	125282226	125282226	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:125282226C>G	ENST00000340750.1	+	1	807	c.807C>G	c.(805-807)gaC>gaG	p.D269E		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTCCAGTGACAAGGACGTAA	0.483000													15	80					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62582256	62582256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:62582256C>A	ENST00000262435.9	-	6	620	c.433G>T	c.(433-435)Gga>Tga	p.G145*	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	145					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACTTGTCCTCCTGTGCCTATT	0.328000													29	111					2.49991e-28	3.59363e-28	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118342477	118342477	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:118342477A>G	ENST00000534358.1	+	3	626	c.603A>G	c.(601-603)aaA>aaG	p.K201K	KMT2A_ENST00000389506.5_Silent_p.K201K|KMT2A_ENST00000354520.4_Silent_p.K201K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCTAAATAAATCAGAGACCA	0.403000													21	55					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058357	48058357	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:48058357G>T	ENST00000316364.5	+	15	2063	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	SEMA6D_ENST00000358066.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G542C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G542C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G542C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G542C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G542C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	542	PSI.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGGATCCTGTGGTAGAGTGAC	0.438000													13	49					4.36969e-10	5.25015e-10	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9404414	9404414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:9404414C>A	ENST00000378501.2	+	24	2318	c.2303C>A	c.(2302-2304)gCt>gAt	p.A768D	PLCB4_ENST00000378493.1_Missense_Mutation_p.A768D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A780D|PLCB4_ENST00000414679.2_Missense_Mutation_p.A780D|PLCB4_ENST00000334005.3_Missense_Mutation_p.A768D|PLCB4_ENST00000278655.4_Missense_Mutation_p.A768D	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	768	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGGACCTGGCTGTCTTGAGA	0.498000													21	32					1.96895e-08	2.27241e-08	1	1	0
WDR7	23335	broad.mit.edu	37	18	54363476	54363476	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:54363476G>T	ENST00000254442.3	+	12	1572	c.1361G>T	c.(1360-1362)tGg>tTg	p.W454L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.W454L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	454										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACAGGTTGGCCACCTCAC	0.378000													8	34					0.00307968	0.00316823	1	1	0
STARD13	90627	broad.mit.edu	37	13	33703979	33703979	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:33703979C>A	ENST00000336934.5	-	5	951	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W	STARD13_ENST00000399365.3_Missense_Mutation_p.G161W|STARD13_ENST00000255486.4_Missense_Mutation_p.G271W	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	279					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)		CCTGTCCGCCCAGACCCCTTA	0.557000													14	109					0.00244969	0.00252821	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033734	30033734	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:30033734G>A	ENST00000328224.6	-	2	1725	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	164	Poly-Gly.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AACTGTAGCCGCCACCGCCCT	0.507000													8	95					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875463	62875463	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:62875463A>G	ENST00000253401.6	-	8	2011	c.1211T>C	c.(1210-1212)cTg>cCg	p.L404P	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L351P|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L383P|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L302P|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L402P|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.L131P	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	404	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGCAAAGAACAGATGTATCTC	0.423000													14	98					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55826622	55826622	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:55826622T>A	ENST00000373965.2	-	19	2530	c.2136A>T	c.(2134-2136)atA>atT	p.I712I	PCDH15_ENST00000409834.1_Silent_p.I316I|PCDH15_ENST00000395430.1_Silent_p.I705I|PCDH15_ENST00000361849.3_Silent_p.I705I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I634I|PCDH15_ENST00000414778.1_Silent_p.I710I|PCDH15_ENST00000320301.6_Silent_p.I705I|PCDH15_ENST00000373955.1_Silent_p.I705I|PCDH15_ENST00000395445.1_Silent_p.I712I|PCDH15_ENST00000395438.1_Silent_p.I705I|PCDH15_ENST00000395433.1_Silent_p.I683I|PCDH15_ENST00000373957.3_Silent_p.I683I|PCDH15_ENST00000395432.2_Silent_p.I668I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	705	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)				CTGTCACCACTATGTTTACTG	0.383000										HNSCC(58;0.16)			20	83					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192497	66192497	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:66192497C>T	ENST00000311034.2	+	7	2312	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	712					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCGTGGAAGACATCTTCATGG	0.597000													37	111					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49580134	49580134	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:49580134A>T	ENST00000371175.4	-	6	947	c.921T>A	c.(919-921)tcT>tcA	p.S307S	RHAG_ENST00000229810.7_Silent_p.S307S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	307					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATCCAAGCACAGAGACCATTC	0.458000													28	80					0	0	1	0	0
SNRPC	6631	broad.mit.edu	37	6	34741334	34741334	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:34741334G>T	ENST00000374017.3	+	5	817	c.530G>T	c.(529-531)cGa>cTa	p.R177L	SNRPC_ENST00000374018.1_Missense_Mutation_p.R115L|SNRPC_ENST00000244520.5_Missense_Mutation_p.R156L			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	156					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGAATGACTCGACCAGACAGA	0.537000													24	51					3.01185e-09	3.55244e-09	1	1	0
NSD1	64324	broad.mit.edu	37	5	176696606	176696606	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176696606G>T	ENST00000439151.2	+	16	5352	c.5307G>T	c.(5305-5307)tgG>tgT	p.W1769C	NSD1_ENST00000361032.4_Missense_Mutation_p.W1666C|NSD1_ENST00000354179.4_Missense_Mutation_p.W1500C|NSD1_ENST00000347982.4_Missense_Mutation_p.W1500C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1769	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCCCAGGTGGTGGCCAGCTG	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			37	45					8.16277e-20	1.11847e-19	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087950	57087950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:57087950C>A	ENST00000532437.1	-	2	642	c.331G>T	c.(331-333)Gga>Tga	p.G111*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.G111*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	111					nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTGGCTTCTCCTCCAGTGGAG	0.627000													8	31					0.0477658	0.0483666	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65409011	65409011	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:65409011T>C	ENST00000394224.3	+	2	915	c.619T>C	c.(619-621)Tac>Cac	p.Y207H	SIPA1_ENST00000394227.3_Missense_Mutation_p.Y207H|SIPA1_ENST00000527525.1_Missense_Mutation_p.Y207H|SIPA1_ENST00000534313.1_Missense_Mutation_p.Y207H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	207					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AACCTCGGCCTACAGCCTGGA	0.632000													3	58					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61950909	61950909	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:61950909G>A	ENST00000422202.1	+	22	2966	c.2898G>A	c.(2896-2898)ccG>ccA	p.P966P	COL20A1_ENST00000435874.1_Silent_p.P966P|COL20A1_ENST00000326996.6_Silent_p.P959P|COL20A1_ENST00000358894.6_Silent_p.P959P			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	959	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTTCGACCCGCAGGAAGTGA	0.652000													3	9					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74474089	74474089	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:74474089G>T	ENST00000263665.6	-	4	388	c.361C>A	c.(361-363)Ctt>Att	p.L121I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	121					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAATTTTCAAGATCTGATTTG	0.383000													4	3					0.00024832	0.000262161	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49066462	49066462	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:49066462G>T	ENST00000376265.2	-	40	4723	c.4662C>A	c.(4660-4662)atC>atA	p.I1554I	CACNA1F_ENST00000376251.1_Silent_p.I1489I|CACNA1F_ENST00000323022.5_Silent_p.I1543I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1554					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGATCTTTTTGATGACAATCC	0.597000													14	72					2.61681e-11	3.24082e-11	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46277841	46277841	+	Splice_Site	SNP	G	G	A	rs139542333		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:46277841G>A	ENST00000372004.3	+	19	3855	c.3639_splice	c.e19+1	p.Q1213_splice	NCOA3_ENST00000341724.6_Splice_Site_p.Q1143_splice|NCOA3_ENST00000371997.3_Splice_Site_p.Q1208_splice|NCOA3_ENST00000371998.3_Silent_p.Q1213Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCAGCCCCAGgtgagctccc	0.512000													19	46					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013163	73013163	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:73013163C>G	ENST00000308744.6	+	4	1301	c.1203C>G	c.(1201-1203)taC>taG	p.Y401*	NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Y302*|NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Y299*|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	401					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTCAGACTACGCTGACCTTT	0.468000													21	95					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105540905	105540905	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:105540905C>T	ENST00000332180.5	+	24	2582	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	832					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ACACATGGCACGGGAATTATG	0.348000													21	145					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063656	74063656	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:74063656T>A	ENST00000370370.3	-	2	281	c.212A>T	c.(211-213)tAc>tTc	p.Y71F		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	71	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						ATAGGAGCCGTAAACCACGAC	0.607000													19	78					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26377306	26377306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:26377306G>T	ENST00000265944.5	+	15	1700	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.E512*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	512	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATCTCCTGGAAAAATCCCG	0.343000													16	51					3.41278e-10	4.14685e-10	1	1	0
SPEG	10290	broad.mit.edu	37	2	220309794	220309794	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:220309794C>G	ENST00000312358.7	+	3	858	c.726C>G	c.(724-726)agC>agG	p.S242R	SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Missense_Mutation_p.S138R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	242					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCGCAAGCTGGGGGTCAG	0.657000													3	19					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324490	24324490	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:24324490T>A	ENST00000175238.6	+	6	651	c.568T>A	c.(568-570)Tcc>Acc	p.S190T	ADAM7_ENST00000380789.1_Missense_Mutation_p.S190T|ADAM7_ENST00000441335.2_Missense_Mutation_p.S190T|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAAGAAGACTCCAAAATAAA	0.353000													39	113					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596947	48596947	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:48596947G>T	ENST00000310248.2	-	1	223	c.129C>A	c.(127-129)ggC>ggA	p.G43G		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGATGATGAGGCCATTCATGG	0.527000													12	42					7.03913e-09	8.24218e-09	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188736	57188736	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:57188736C>A	ENST00000331162.4	-	5	656	c.386G>T	c.(385-387)tGt>tTt	p.C129F		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACACTTTTACAGCATTTTTT	0.353000													40	125					1.48734e-19	2.01228e-19	1	1	0
ZNF85	7639	broad.mit.edu	37	19	21131822	21131822	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:21131822C>A	ENST00000601023.1	+	2	971	c.325C>A	c.(325-327)Cat>Aat	p.H109N	ZNF85_ENST00000345030.6_Missense_Mutation_p.H135N|ZNF85_ENST00000328178.8_Missense_Mutation_p.H168N			Q03923	ZNF85_HUMAN	zinc finger protein 85	168						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TGAGATAAGACATACTAAAAA	0.308000													7	99					0.000157383	0.000167806	1	1	0
PPP2R2D	55844	broad.mit.edu	37	10	133769195	133769195	+	Silent	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:133769195A>T	ENST00000422256.2	+	8	890	c.405A>T	c.(403-405)tcA>tcT	p.S135S	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	0					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CAGCGCCATCATGACCGGGTC	0.602000													12	52					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103345284	103345284	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:103345284G>A	ENST00000358392.2	-	66	5582	c.5265C>T	c.(5263-5265)tcC>tcT	p.S1755S	COL11A1_ENST00000353414.4_Silent_p.S1704S|COL11A1_ENST00000370096.3_Silent_p.S1743S|COL11A1_ENST00000512756.1_Silent_p.S1627S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1743	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TATTGTCATAGGACATCTCCT	0.443000													11	74					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914419	10914419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr21:10914419G>T	ENST00000298232.7	-	20	1613	c.1246C>A	c.(1246-1248)Caa>Aaa	p.Q416K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.Q434K|TPTE_ENST00000342420.5_Missense_Mutation_p.Q396K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	434	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATTTCTATTTGGATTTTTAGA	0.313000													7	116					5.18039e-06	5.75202e-06	1	1	0
CEP97	79598	broad.mit.edu	37	3	101451477	101451477	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:101451477A>G	ENST00000341893.3	+	6	1459	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000327230.4_Missense_Mutation_p.Y236C|CEP97_ENST00000494050.1_Missense_Mutation_p.Y236C			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	236	LRRCT.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTAGATGGATATGTGATTTCT	0.398000													48	67					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400883	78400883	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:78400883C>G	ENST00000397909.2	+	8	1738	c.1565C>G	c.(1564-1566)cCg>cGg	p.P522R	NAV3_ENST00000536525.2_Missense_Mutation_p.P522R|NAV3_ENST00000228327.6_Missense_Mutation_p.P522R|NAV3_ENST00000266692.7_Missense_Mutation_p.P522R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	522						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						AGCTTAATTCCGTCTTCCAGT	0.453000										HNSCC(70;0.22)			20	59					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005539	123005539	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:123005539C>A	ENST00000462833.1	-	20	4862	c.3650G>T	c.(3649-3651)cGc>cTc	p.R1217L	ADCY5_ENST00000491190.1_Missense_Mutation_p.R875L|ADCY5_ENST00000309879.5_Missense_Mutation_p.R867L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1217					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CACCTGGATGCGGTCGGGTAC	0.632000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	105					8.12818e-05	8.7828e-05	1	1	0
RALGPS1	9649	broad.mit.edu	37	9	129958792	129958792	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:129958792G>A	ENST00000259351.5	+	13	1344	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	359					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTAAAAGTGCGACATTCCCAT	0.512000													10	122					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14419991	14419991	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:14419991G>T	ENST00000344204.4	+	34	5088	c.5064G>T	c.(5062-5064)cgG>cgT	p.R1688R	TRIO_ENST00000537187.1_Silent_p.R1688R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1688	SH3 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTGGAGCGGCCGCATGACA	0.622000													23	21					6.44725e-10	7.68895e-10	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82431761	82431761	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:82431761C>A	ENST00000370728.1	+	14	2670	c.2025C>A	c.(2023-2025)ctC>ctA	p.L675L	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Silent_p.L675L|LPHN2_ENST00000319517.6_Silent_p.L662L|LPHN2_ENST00000370730.1_Silent_p.L675L|LPHN2_ENST00000370721.1_Silent_p.L600L|LPHN2_ENST00000370723.1_Silent_p.L662L|LPHN2_ENST00000370715.1_Silent_p.L662L|LPHN2_ENST00000370725.1_Silent_p.L675L|LPHN2_ENST00000359929.3_Silent_p.L662L|LPHN2_ENST00000394879.1_Silent_p.L662L|LPHN2_ENST00000370713.1_Silent_p.L662L|LPHN2_ENST00000370717.2_Silent_p.L675L|LPHN2_ENST00000335786.5_Silent_p.L675L|LPHN2_ENST00000271029.4_Silent_p.L675L			O95490	LPHN2_HUMAN	latrophilin 2	675					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGCCGTACTCAGTACAGAAG	0.438000													17	131					2.39187e-15	3.10558e-15	1	1	0
DST	667	broad.mit.edu	37	6	56479240	56479240	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:56479240T>G	ENST00000370754.5	-	36	4872	c.4873A>C	c.(4873-4875)Aaa>Caa	p.K1625Q	DST_ENST00000312431.6_Missense_Mutation_p.K1447Q|DST_ENST00000370769.4_Missense_Mutation_p.K1447Q|DST_ENST00000421834.2_Missense_Mutation_p.K1447Q|DST_ENST00000446842.2_Missense_Mutation_p.K1121Q|DST_ENST00000244364.6_Missense_Mutation_p.K1121Q|DST_ENST00000370788.2_Missense_Mutation_p.K1447Q|DST_ENST00000361203.3_Missense_Mutation_p.K1447Q			Q03001	DYST_HUMAN	dystonin	1447					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAATTCTTTGGCTTTTTCA	0.358000													10	35					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751766	76751766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:76751766C>A	ENST00000369950.3	-	2	334	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	49					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACATTTTTTCAGTACTTTCA	0.353000													31	127					1.99505e-19	2.68789e-19	1	1	0
ZNF138	7697	broad.mit.edu	37	7	64292517	64292517	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:64292517A>G	ENST00000359735.3	+	4	1073	c.726A>G	c.(724-726)atA>atG	p.I242M	ZNF138_ENST00000307355.7_Missense_Mutation_p.I299M|ZNF138_ENST00000397136.2_Missense_Mutation_p.I242M|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.I273M|ZNF138_ENST00000437743.1_Missense_Mutation_p.I267M	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	273					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AACATCAGATAATTTATACTG	0.348000													16	45					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625346	33625346	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:33625346C>T	ENST00000291416.5	-	3	937	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	TRIM62_ENST00000543586.1_Missense_Mutation_p.R114Q|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	235						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TTCAGCCAGCCGCTCCTGCAG	0.692000													14	38					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800388	67800388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:67800388C>G	ENST00000544246.1	-	2	2876	c.2185G>C	c.(2185-2187)Gat>Cat	p.D729H	PCDH9_ENST00000377865.2_Missense_Mutation_p.D729H|PCDH9_ENST00000328454.5_Missense_Mutation_p.D729H|PCDH9_ENST00000456367.1_Missense_Mutation_p.D729H|PCDH9_ENST00000377861.3_Missense_Mutation_p.D729H	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	729	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTACTGGATCAATCCGGAAT	0.428000													37	121					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761769	96761769	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:96761769G>T	ENST00000295266.4	+	1	531	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	156					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TGTATACCAAGAACTTCTATG	0.507000													40	77					4.90274e-10	5.86871e-10	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104955103	104955103	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:104955103T>C	ENST00000507740.1	+	11	2262	c.2026T>C	c.(2026-2028)Tat>Cat	p.Y676H	RIMS2_ENST00000262231.10_Missense_Mutation_p.Y723H|RIMS2_ENST00000406091.3_Missense_Mutation_p.Y884H|RIMS2_ENST00000436393.2_Missense_Mutation_p.Y662H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	946	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTTCTCCATATATGCCACG	0.378000										HNSCC(12;0.0054)			22	64					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344165	248344165	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248344165G>A	ENST00000359682.2	+	1	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.463000													52	234					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91827366	91827366	+	Silent	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:91827366C>G	ENST00000394232.1	+	11	2093	c.1623C>G	c.(1621-1623)gtC>gtG	p.V541V	SV2B_ENST00000330276.4_Silent_p.V541V|SV2B_ENST00000545111.2_Silent_p.V390V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	541					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTACCTCGTCAGCTTCCTGG	0.502000													50	140					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561853	142561853	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:142561853G>A	ENST00000295992.3	-	4	792	c.486C>T	c.(484-486)tcC>tcT	p.S162S	PCOLCE2_ENST00000485766.1_Silent_p.S162S	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	162	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TAAAAGAGCCGGAAGGTCTGT	0.473000													5	187					0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83884177	83884177	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:83884177C>T	ENST00000513973.1	-	10	1274	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K	PGM3_ENST00000512866.1_Silent_p.K386K|PGM3_ENST00000506587.1_Silent_p.K414K|PGM3_ENST00000283977.4_Silent_p.K305K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	386					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATTGTTTTATCTTCATTTCAA	0.348000													6	62					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70397246	70397246	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:70397246G>T	ENST00000310961.5	+	9	1023	c.605G>T	c.(604-606)gGt>gTt	p.G202V	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.G197V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	197						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						AATGAATTCGGTGAGCTGGTA	0.388000													10	41					6.40141e-05	6.9637e-05	1	1	0
TMEM19	55266	broad.mit.edu	37	12	72094709	72094709	+	Silent	SNP	G	G	T	rs139427215		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:72094709G>T	ENST00000266673.5	+	6	1539	c.945G>T	c.(943-945)ctG>ctT	p.L315L		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	315						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTGAATCTGTTTTCTTCTG	0.473000													89	266					4.90379e-48	7.21013e-48	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13716792	13716792	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:13716792G>T	ENST00000265104.4	-	74	12817	c.12713C>A	c.(12712-12714)tCc>tAc	p.S4238Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4238					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)					GGTGGTCCAGGAGACACCCTG	0.408000									Kartagener syndrome				14	59					4.3838e-07	4.91841e-07	1	1	0
POLR3E	55718	broad.mit.edu	37	16	22325008	22325008	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:22325008G>T	ENST00000299853.5	+	7	599	c.432G>T	c.(430-432)aaG>aaT	p.K144N	POLR3E_ENST00000418581.2_Missense_Mutation_p.K108N|POLR3E_ENST00000564209.1_Missense_Mutation_p.K144N|POLR3E_ENST00000359210.4_Missense_Mutation_p.K144N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	144					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCTGGATAAGGCTGACGCCA	0.637000													17	50					1.56452e-12	1.96022e-12	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72170402	72170402	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:72170402T>C	ENST00000537465.1	-	9	1306	c.1148A>G	c.(1147-1149)cAg>cGg	p.Q383R	PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q383R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q238R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	383										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTGCAGCTCCTGCAGCCGGCA	0.552000													47	116					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541364	55541364	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55541364T>A	ENST00000361760.1	+	1	451	c.451T>A	c.(451-453)Tat>Aat	p.Y151N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTGGGTCCTATACATGGGG	0.423000													54	176					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307076	46307076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:46307076C>T	ENST00000357422.2	+	4	970	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CCR3_ENST00000395942.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000395940.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000541018.1_Nonsense_Mutation_p.R143*|CCR3_ENST00000545097.1_Nonsense_Mutation_p.R164*			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	143					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTTTGCCCTTCGAGCCCGGAC	0.498000													16	65					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7516766	7516766	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:7516766C>T	ENST00000399429.3	-	14	1350	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	404	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G404R(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AATCCTTCTCCGGGTAAGCCC	0.473000													13	59					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176687152	176687152	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:176687152G>A	ENST00000439151.2	+	14	5174	c.5129G>A	c.(5128-5130)tGc>tAc	p.C1710Y	NSD1_ENST00000361032.4_Missense_Mutation_p.C1607Y|NSD1_ENST00000354179.4_Missense_Mutation_p.C1441Y|NSD1_ENST00000347982.4_Missense_Mutation_p.C1441Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	78					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24078974	24078974	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:24078974C>T	ENST00000418390.2	+	5	1852	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	527					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGCCTTCCCTCGAGCTGATAT	0.478000													7	34					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32049108	32049108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:32049108G>T	ENST00000271064.7	+	5	590	c.514G>T	c.(514-516)Gag>Tag	p.E172*	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Nonsense_Mutation_p.E141*	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	172					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GACCCTGGATGAGGGCATTCG	0.577000													10	24					0.361761	0.361761	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49764794	49764794	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:49764794A>G	ENST00000561648.1	-	3	218	c.165T>C	c.(163-165)aaT>aaC	p.N55N	ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.N55N|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	55					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CATCATCCTCATTTCTCTCCT	0.547000													45	171					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130947448	130947448	+	Silent	SNP	G	G	A	rs145914506		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:130947448G>A	ENST00000383366.4	+	15	1769	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	NEK11_ENST00000412440.2_Silent_p.E308E|NEK11_ENST00000510688.1_Silent_p.E492E|NEK11_ENST00000508196.1_Silent_p.E492E|NEK11_ENST00000429253.2_Silent_p.E492E|NEK11_ENST00000510769.1_Silent_p.E387E	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	492			E -> K (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAGTGATGAGGAGGAAGAAG	0.433000													17	314					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080828	152080828	+	Missense_Mutation	SNP	C	C	A	rs71585886		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:152080828C>A	ENST00000368804.1	-	2	4864	c.4865G>T	c.(4864-4866)cGc>cTc	p.R1622L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1622	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602000													30	130					3.1745e-13	4.00858e-13	1	1	0
CLEC14A	161198	broad.mit.edu	37	14	38723900	38723900	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:38723900A>G	ENST00000342213.2	-	1	1674	c.1328T>C	c.(1327-1329)cTg>cCg	p.L443P		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	443						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ATCACTCTCCAGGCCCGGCGG	0.572000													14	64					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516321	192516321	+	Missense_Mutation	SNP	C	C	T	rs61729336	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:192516321C>T	ENST00000392452.2	-	2	1650	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	444										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GGGTCCCCTCCGTCAGACTGT	0.562000													7	222					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451247	110451247	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:110451247C>G	ENST00000378402.5	+	32	3986	c.3882C>G	c.(3880-3882)tgC>tgG	p.C1294W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1294	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATATTAGATGCCTTTTGCCCA	0.388000										HNSCC(38;0.096)			21	200					0	0	1	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877641	106877641	+	RNA	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:106877641G>T	ENST00000390619.2	-	0	402																											ATACACAGCCGTGTCTGCGGC	0.582000													6	317					0.00198382	0.00205399	1	1	0
TRBV5-5	28610	broad.mit.edu	37	7	142149044	142149044	+	RNA	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:142149044C>T	ENST00000390372.3	-	0	233																											GAAGTTTCCTCTTCCTCTCTC	0.512000													34	100					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528987	101528987	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:101528987G>A	ENST00000284395.5	+	6	973	c.573G>A	c.(571-573)gtG>gtA	p.V191V	LRRK1_ENST00000532029.2_Silent_p.V194V|LRRK1_ENST00000388948.3_Silent_p.V194V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	194					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGTCATCGTGCGCTTGCCCC	0.612000													12	31					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29519927	29519927	+	Silent	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:29519927A>G	ENST00000222792.6	+	7	1139	c.609A>G	c.(607-609)acA>acG	p.T203T	CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Silent_p.T67T|CHN2_ENST00000546235.1_Silent_p.T188T|CHN2_ENST00000539389.1_Silent_p.T59T|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000539406.1_Silent_p.T278T|CHN2_ENST00000409041.4_Silent_p.T67T|CHN2_ENST00000439711.2_Silent_p.T67T|CHN2_ENST00000495789.2_Silent_p.T216T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	203					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTGCCCTCACACACAACGACA	0.502000													9	53					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75930320	75930320	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:75930320T>A	ENST00000377636.3	-	4	1584	c.1238A>T	c.(1237-1239)tAt>tTt	p.Y413F	TBC1D4_ENST00000377625.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Y413F|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	413	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATAACAAATATACTGGCTAAG	0.463000													10	42					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736654	141736654	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:141736654C>T	ENST00000475668.2	+	18	2162	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	MGAM_ENST00000549489.2_Missense_Mutation_p.S703F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	703	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGCTGACTCCCTGCTGTTG	0.532000													44	148					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4043454	4043454	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:4043454C>T	ENST00000294016.3	-	4	2480	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	648					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAGGTGCTCCTCCCTCGGCG	0.547000													34	114					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111862902	111862902	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:111862902C>A	ENST00000369740.1	+	12	1348	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	CHIA_ENST00000451398.2_Missense_Mutation_p.S254R|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.S254R|CHIA_ENST00000430615.1_Missense_Mutation_p.S307R|CHIA_ENST00000343320.6_Missense_Mutation_p.S415R|CHIA_ENST00000483391.1_Missense_Mutation_p.S254R	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	415	Poly-Ser.				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGAACGGGAGCGGGAGTAGCA	0.582000													21	43					4.35082e-09	5.113e-09	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54758782	54758782	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:54758782C>T	ENST00000450632.1	-	6	1121	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	LILRB5_ENST00000345866.6_Silent_p.K257K|LILRB5_ENST00000316219.5_Silent_p.K357K|LILRB5_ENST00000449561.2_Silent_p.K357K			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	357	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCCCCTCCTTGGTCAAAA	0.572000													14	56					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539773	94539773	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:94539773G>T	ENST00000289495.5	+	1	564	c.348G>T	c.(346-348)ttG>ttT	p.L116F	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L116F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L116F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L116F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	116	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTTAAGTTGGAGTCTTCTG	0.408000										HNSCC(28;0.073)			22	84					5.26018e-13	6.61632e-13	1	1	0
MEP1A	4224	broad.mit.edu	37	6	46800886	46800886	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:46800886G>A	ENST00000230588.4	+	11	1229	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	407	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTTTTCCAGGGCACAAAAGGC	0.512000													5	147					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806094	26806094	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:26806094C>T	ENST00000541819.2	-	9	1335	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	GABRB3_ENST00000400188.3_Silent_p.K284K|GABRB3_ENST00000311550.5_Silent_p.K355K|GABRB3_ENST00000299267.4_Silent_p.K355K|GABRB3_ENST00000545868.1_Silent_p.K270K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTTTCGCTCTTTGAACGGT	0.473000													42	139					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108812287	108812287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:108812287C>T	ENST00000232603.5	-	8	767	c.685G>A	c.(685-687)Gag>Aag	p.E229K	MORC1_ENST00000483760.1_Missense_Mutation_p.E229K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	229					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACATACTCCTCCAGAGCTCCA	0.433000													13	89					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129989825	129989825	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:129989825T>C	ENST00000485477.1	+	4	1337	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R	CPA5_ENST00000474905.1_Missense_Mutation_p.W70R|CPA5_ENST00000466363.2_Missense_Mutation_p.W70R|CPA5_ENST00000461828.1_Missense_Mutation_p.W70R|CPA5_ENST00000431780.2_Missense_Mutation_p.W70R|CPA5_ENST00000393213.3_Missense_Mutation_p.W70R|CPA5_ENST00000355388.3_Missense_Mutation_p.W70R			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	70					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGTGGACTTCTGGCGTGGCCC	0.502000													38	121					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12281413	12281413	+	Silent	SNP	C	C	A	rs144667365		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:12281413C>A	ENST00000256194.4	+	26	3591	c.3303C>A	c.(3301-3303)gcC>gcA	p.A1101A	MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000527546.1_Silent_p.A911A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592000													8	34					0.000274275	0.000288616	1	1	0
OR51B4	79339	broad.mit.edu	37	11	5322799	5322799	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:5322799T>C	ENST00000380224.1	-	1	427	c.378A>G	c.(376-378)ccA>ccG	p.P126P	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACCTCAGTGGTGTGCGGA	0.443000													20	78					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51566130	51566130	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:51566130G>T	ENST00000307660.4	-	1	796	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	TFCP2_ENST00000257915.5_Missense_Mutation_p.L26M|TFCP2_ENST00000548115.1_Missense_Mutation_p.L26M|TFCP2_ENST00000549867.1_Missense_Mutation_p.L26M	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	26					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATCCCGGACAGGCTAGCATCA	0.567000													43	120					1.22674e-20	1.70264e-20	1	1	0
FMOD	2331	broad.mit.edu	37	1	203317209	203317209	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:203317209T>A	ENST00000354955.4	-	2	653	c.190A>T	c.(190-192)Acc>Tcc	p.T64S	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	64					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGCCGTAGGTGTAGGCTGGC	0.612000													14	49					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185970889	185970889	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:185970889C>G	ENST00000265022.3	-	18	2132	c.1593G>C	c.(1591-1593)tgG>tgC	p.W531C	DGKG_ENST00000344484.4_Missense_Mutation_p.W506C|DGKG_ENST00000544847.1_Missense_Mutation_p.W472C|DGKG_ENST00000382164.4_Missense_Mutation_p.W492C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	531	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACCTCCTCCCCAGCGGAGAC	0.517000													5	209					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48238538	48238538	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:48238538C>A	ENST00000229022.3	-	11	1556	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	VDR_ENST00000549336.1_Missense_Mutation_p.E425D|VDR_ENST00000395324.2_Missense_Mutation_p.E425D|VDR_ENST00000550325.1_Missense_Mutation_p.E475D|VDR_ENST00000535672.1_Missense_Mutation_p.E393D	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	425	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCAGGAGATCTCATTGCCAA	0.637000													17	60					1.67942e-08	1.94522e-08	1	1	0
IGHV3-30	28439	broad.mit.edu	37	14	106791181	106791181	+	RNA	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:106791181C>A	ENST00000390613.2	-	0	254																											TTGCCTGGAGCCTGGCGGACC	0.562000													32	482					1.26612e-14	1.62426e-14	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963711	88963711	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:88963711C>G	ENST00000333190.4	+	4	2024	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	472						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTGTATCTCTTATGGCTGC	0.428000										HNSCC(36;0.09)			13	77					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144758722	144758722	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:144758722G>C	ENST00000367545.3	+	10	1081	c.1081G>C	c.(1081-1083)Gca>Cca	p.A361P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	361	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAACTGACTGCACACCAGAG	0.428000													16	74					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87133567	87133567	+	Missense_Mutation	SNP	G	G	T	rs137996914		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:87133567G>T	ENST00000265724.3	-	29	4252	c.3835C>A	c.(3835-3837)Cgc>Agc	p.R1279S	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1215S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1279					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTCACTGGCGCTTTGTTCCA	0.388000													25	88					2.98393e-07	3.37132e-07	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16895572	16895572	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:16895572T>A	ENST00000430580.2	-	23	3497	c.2610A>T	c.(2608-2610)atA>atT	p.I870I	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	870	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTCACCGCCTATGTCAACAG	0.493000													122	1753					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47769417	47769417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:47769417G>A	ENST00000398545.4	-	6	1183	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	356										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTTCTCCTGAGCTTTTTCT	0.368000													45	148					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027835	37027835	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:37027835G>T	ENST00000358047.3	+	1	1404	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451								p.R451P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.617000													35	35					6.05902e-23	8.55704e-23	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14024096	14024096	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:14024096G>C	ENST00000318003.7	+	5	735	c.494G>C	c.(493-495)cGc>cCc	p.R165P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R165P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	165					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGATGCGGCGCTACGATCGG	0.617000													20	46					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100014	110100014	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:110100014G>T	ENST00000518632.1	+	2	624	c.273G>T	c.(271-273)tgG>tgT	p.W91C	TRHR_ENST00000311762.2_Missense_Mutation_p.W91C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	91						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACGGTTCCTGGGTCTATGGCT	0.493000													52	292					1.86277e-20	2.5633e-20	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169506071	169506071	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:169506071G>T	ENST00000256935.8	+	49	5167	c.5087G>T	c.(5086-5088)cGg>cTg	p.R1696L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R1188L|DOCK2_ENST00000540750.1_Missense_Mutation_p.R757L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAAGCTGCGGAGGTCCAAG	0.572000													40	54					2.40579e-17	3.20109e-17	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087949	57087949	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:57087949C>A	ENST00000532437.1	-	2	643	c.332G>T	c.(331-333)gGa>gTa	p.G111V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G111V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	111					nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGTGGCTTCTCCTCCAGTGGA	0.632000													7	31					0.27861	0.279478	1	1	0
OR2T8	343172	broad.mit.edu	37	1	248084585	248084585	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248084585C>T	ENST00000319968.4	+	1	266	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAAGTAAGGCCATCTCCCGC	0.577000													11	55					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652078	152652078	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:152652078G>T	ENST00000367255.5	-	78	14343	c.13742C>A	c.(13741-13743)gCa>gAa	p.A4581E	SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328E|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510E|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581E|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4581					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAATATCTGCTTGTTTTAG	0.363000										HNSCC(10;0.0054)			39	111					3.09479e-21	4.3327e-21	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43044498	43044498	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:43044498C>A	ENST00000267890.6	-	14	3054	c.2946G>T	c.(2944-2946)ctG>ctT	p.L982L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	982					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTTTTCCACCAGAAGCTTGA	0.443000													39	115					9.62906e-15	1.24022e-14	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493000													14	79					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46292260	46292260	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:46292260T>C	ENST00000359930.4	-	16	3015	c.2164A>G	c.(2164-2166)Atg>Gtg	p.M722V	SULF2_ENST00000467815.1_Missense_Mutation_p.M722V|SULF2_ENST00000361612.4_Missense_Mutation_p.M722V|SULF2_ENST00000484875.1_Missense_Mutation_p.M722V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	722					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGGCCTGGCATGCTGCACGTG	0.617000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	135					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905727	164905727	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:164905727C>A	ENST00000475390.1	-	2	3335	c.2892G>T	c.(2890-2892)ccG>ccT	p.P964P	SLITRK3_ENST00000241274.3_Silent_p.P964P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	964						integral to membrane		p.P964P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGAGGTAATCCGGCTTGGTTT	0.393000										HNSCC(40;0.11)			130	150					6.63188e-95	9.84085e-95	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745754	77745754	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:77745754T>A	ENST00000409088.3	-	3	1655	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E415V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E414V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E415V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	414						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATACTCTTGCTCTGCGCCAGG	0.483000													4	41					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103336783	103336783	+	Splice_Site	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:103336783G>T	ENST00000560371.1	+	2	462	c.245_splice	c.e2+1	p.S82_splice	TRAF3_ENST00000351691.5_Splice_Site_p.S82_splice|TRAF3_ENST00000539721.1_Splice_Site_p.S82_splice|TRAF3_ENST00000392745.2_Splice_Site_p.S82_splice|TRAF3_ENST00000347662.4_Splice_Site_p.S82_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	82					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GCCCTGCTGAGGTAGGCGCCC	0.607000													5	22					3.59834e-05	3.92768e-05	1	1	0
GRM1	2911	broad.mit.edu	37	6	146755275	146755275	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:146755275G>T	ENST00000361719.2	+	9	3398	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.M976I|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	976					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCTTCCATGGTGGTGCACA	0.642000													49	141					1.56793e-16	2.06915e-16	1	1	0
TJP1	7082	broad.mit.edu	37	15	30054611	30054611	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:30054611A>G	ENST00000346128.6	-	6	1094	c.620T>C	c.(619-621)tTt>tCt	p.F207S	TJP1_ENST00000545208.2_Missense_Mutation_p.F207S|TJP1_ENST00000400011.2_Missense_Mutation_p.F211S|TJP1_ENST00000356107.6_Missense_Mutation_p.F207S|TJP1_ENST00000495972.2_Missense_Mutation_p.F207S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	207	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTCCTTAACAAATATATGGCT	0.299000													12	63					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116082637	116082637	+	Splice_Site	SNP	C	C	A	rs148709910		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:116082637C>A	ENST00000374193.4	-	9	1026	c.780_splice	c.e9+1	p.T260_splice	WDR31_ENST00000341761.4_Splice_Site_p.T259_splice|WDR31_ENST00000374195.3_Splice_Site_p.T135_splice|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	260								p.T260T(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTCTCCTACCGTGGCTTCAC	0.517000													20	111					1.22574e-08	1.42486e-08	1	1	0
DPPA5	340168	broad.mit.edu	37	6	74063660	74063660	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:74063660C>T	ENST00000370370.3	-	2	277	c.208G>A	c.(208-210)Gtt>Att	p.V70I		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	70	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						GAGCCGTAAACCACGACCTCG	0.597000													18	79					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38404180	38404180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:38404180G>A	ENST00000351773.3	+	7	1030	c.200G>A	c.(199-201)tGg>tAg	p.W67*	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000361085.4_Nonsense_Mutation_p.W67*	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	67	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAGGAGCCATGGATATTAGAG	0.418000													10	41					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102130441	102130441	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:102130441G>T	ENST00000369138.1	+	5	1227	c.737G>T	c.(736-738)gGa>gTa	p.G246V	GRIK2_ENST00000413795.1_Missense_Mutation_p.G246V|GRIK2_ENST00000358361.3_Missense_Mutation_p.G246V|GRIK2_ENST00000421544.1_Missense_Mutation_p.G246V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G246V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G246V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G197V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	246					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTAGCTATGGGAATGATGACA	0.284000													21	93					2.21704e-12	2.767e-12	1	1	0
TP53	7157	broad.mit.edu	37	17	7579372	7579372	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:7579372G>A	ENST00000420246.2	-	4	447	c.315C>T	c.(313-315)ggC>ggT	p.G105G	TP53_ENST00000359597.4_Silent_p.G105G|TP53_ENST00000445888.2_Silent_p.G105G|TP53_ENST00000269305.4_Silent_p.G105G|TP53_ENST00000455263.2_Silent_p.G105G|TP53_ENST00000413465.2_Silent_p.G105G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		AACCGTAGCTGCCCTGGTAGG	0.617000		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)			17	77					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508287	71508287	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:71508287G>C	ENST00000396073.3	+	9	1425	c.1144G>C	c.(1144-1146)Gct>Cct	p.A382P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	382					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTATCACAAAGCTTACCCTCC	0.433000													45	145					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420831	54420831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:54420831G>C	ENST00000334206.5	-	10	1277	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	CDC20B_ENST00000296733.1_Missense_Mutation_p.H339D|CDC20B_ENST00000381375.2_Missense_Mutation_p.H339D|CDC20B_ENST00000322374.6_Missense_Mutation_p.H339D			Q86Y33	CD20B_HUMAN	cell division cycle 20B	0										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACATCGTGATGATAAACACGC	0.468000													12	117					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766439	20766439	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:20766439C>A	ENST00000359062.3	+	3	1114	c.1074C>A	c.(1072-1074)acC>acA	p.T358T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	358				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCCTCATTACCGACCTCCTGG	0.542000													20	83					0.000132079	0.000142239	1	1	0
SESTD1	91404	broad.mit.edu	37	2	179997067	179997067	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:179997067T>C	ENST00000428443.3	-	10	1252	c.936A>G	c.(934-936)ctA>ctG	p.L312L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	312					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTTCTGCTGTAGGGCCTGGG	0.473000													88	304					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79393380	79393380	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:79393380A>T	ENST00000264895.6	+	52	7858	c.7418A>T	c.(7417-7419)gAc>gTc	p.D2473V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2472					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGACCCAGACACCGAGGAC	0.507000													15	63					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136240236	136240236	+	Silent	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:136240236G>C	ENST00000383202.2	-	7	751	c.495C>G	c.(493-495)acC>acG	p.T165T	STAG1_ENST00000480733.1_Silent_p.T165T|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Silent_p.T165T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	165					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTCCAGGCATGGTAAGAGGAT	0.333000													9	129					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101646	81101646	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:81101646C>A	ENST00000228641.3	+	1	370	c.148C>A	c.(148-150)Ccg>Acg	p.P50T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	50					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCAAATGCCCCCGGAAGCGGG	0.612000													19	66					1.01871e-10	1.24724e-10	1	1	0
ANLN	54443	broad.mit.edu	37	7	36447556	36447556	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:36447556A>G	ENST00000265748.2	+	5	1308	c.1087A>G	c.(1087-1089)Acg>Gcg	p.T363A	ANLN_ENST00000396068.2_Missense_Mutation_p.T363A|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	363	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGACAAATCTACGACACCAGG	0.323000													14	46					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503582	40503582	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:40503582G>T	ENST00000590910.1	-	5	572	c.443C>A	c.(442-444)cCc>cAc	p.P148H	RIT2_ENST00000282028.4_Silent_p.P127P|RIT2_ENST00000326695.5_Silent_p.P127P|RIT2_ENST00000589109.1_Silent_p.P127P			Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAGCACCAGGGGAATTTCAT	0.473000													80	217					3.37217e-29	4.86923e-29	1	1	0
TOR1AIP1	26092	broad.mit.edu	37	1	179851798	179851798	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:179851798G>A	ENST00000435319.3	+	1	352	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R54Q	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	54						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CGCCAGGGCCGGCGGGAAGTG	0.677000													10	41					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156860	155156860	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:155156860A>T	ENST00000357232.3	-	25	7578	c.7579T>A	c.(7579-7581)Tct>Act	p.S2527T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2527	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTCCTTCAGAGGAGAAAGAC	0.408000													14	68					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481428	43481428	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:43481428C>A	ENST00000532038.1	-	6	983	c.848G>T	c.(847-849)cGc>cTc	p.R283L	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R478L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R164L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R137L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R505L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R483L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R164L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	505					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGTCTTGGTGCGATGGAGCAC	0.582000													10	27					0.000673444	0.000701777	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20619089	20619089	+	Silent	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:20619089C>T	ENST00000504154.1	+	36	4416	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I	SLIT2_ENST00000503823.1_Silent_p.I1380I|SLIT2_ENST00000273739.5_Silent_p.I1401I|SLIT2_ENST00000503837.1_Silent_p.I1384I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1388					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTTGCCCATCAATGCGTTCT	0.512000													13	48					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121825286	121825286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:121825286G>A	ENST00000330540.2	+	4	758	c.642G>A	c.(640-642)atG>atA	p.M214I	CD86_ENST00000393627.2_Missense_Mutation_p.M208I|CD86_ENST00000493101.1_Missense_Mutation_p.M102I|CD86_ENST00000469710.1_Missense_Mutation_p.M132I|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	214	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.M214I(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CGAGCAATATGACCATCTTCT	0.393000													23	515					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539752	62539752	+	RNA	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:62539752T>A	ENST00000570077.1	-	0	170																											TGCCCGTTCGTCTGTGGGCTG	0.557000													7	22					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703338	198703338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:198703338C>G	ENST00000367376.2	+	21	2321	c.2150C>G	c.(2149-2151)cCc>cGc	p.P717R	PTPRC_ENST00000442510.2_Missense_Mutation_p.P719R|PTPRC_ENST00000352140.3_Missense_Mutation_p.P669R|PTPRC_ENST00000348564.6_Missense_Mutation_p.P558R|PTPRC_ENST00000594404.1_Missense_Mutation_p.P556R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCAAAGAACCCAGGAAATAC	0.294000													25	103					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512906	248512906	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248512906C>A	ENST00000317861.1	+	1	830	c.830C>A	c.(829-831)tCc>tAc	p.S277Y		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGTTTTTATTCCATAATGCCT	0.418000													22	80					8.10497e-08	9.25461e-08	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71495356	71495356	+	Silent	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr5:71495356C>A	ENST00000296755.7	+	5	6472	c.6174C>A	c.(6172-6174)tcC>tcA	p.S2058S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2058						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCACATATTCCTACGAGACTT	0.468000													19	118					5.3912e-06	5.96552e-06	1	1	0
DHX35	60625	broad.mit.edu	37	20	37631503	37631503	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:37631503A>G	ENST00000252011.3	+	10	877	c.844A>G	c.(844-846)Act>Gct	p.T282A	DHX35_ENST00000373323.4_Missense_Mutation_p.T251A|DHX35_ENST00000373325.2_Missense_Mutation_p.T282A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	282	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGCATTTCTTACTGGCCAGGT	0.398000													32	102					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4805302	4805302	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:4805302G>T	ENST00000293780.4	-	5	435	c.425C>A	c.(424-426)gCc>gAc	p.A142D	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	142					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GCGGTAGATGGCCGGAGGCAG	0.622000													20	72					7.41877e-09	8.65524e-09	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58206882	58206882	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:58206882A>T	ENST00000302572.2	-	1	764	c.743T>A	c.(742-744)aTc>aAc	p.I248N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCATAAAAGATGGAAACTGC	0.433000													17	59					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935700	47935700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:47935700C>T	ENST00000236877.6	-	9	2508	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.D461N|SLC8A2_ENST00000539381.1_Missense_Mutation_p.D168N	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	705					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCCTCCTCGTCCCCTGTGGGC	0.592000													21	63					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194181535	194181535	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:194181535C>G	ENST00000439040.1	-	4	868	c.77G>C	c.(76-78)cGc>cCc	p.R26P	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R26P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAGCTTCCAGCGACTCAAATT	0.433000													20	145					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6648870	6648870	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:6648870T>C	ENST00000299441.3	-	14	5811	c.5400A>G	c.(5398-5400)ctA>ctG	p.L1800L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1800	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCAAGGTCTAGGACAAAGG	0.547000													13	36					0	0	1	0	0
RWDD2A	112611	broad.mit.edu	37	6	83905690	83905690	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:83905690G>C	ENST00000369724.4	+	3	783	c.578G>C	c.(577-579)gGt>gCt	p.G193A	RWDD2A_ENST00000539997.1_Missense_Mutation_p.G139A	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	193										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GGAAAGCCTGGTATAATCTGT	0.428000													6	98					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344149	248344149	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248344149C>G	ENST00000359682.2	+	1	862	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGAATCCCCTCATCTACAG	0.463000													61	195					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99945602	99945602	+	Silent	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:99945602T>C	ENST00000372981.1	-	7	861	c.675A>G	c.(673-675)ccA>ccG	p.P225P	SYTL4_ENST00000455616.1_Silent_p.P225P|SYTL4_ENST00000263033.5_Silent_p.P225P|SYTL4_ENST00000372989.1_Silent_p.P225P|SYTL4_ENST00000454200.2_Silent_p.P226P|SYTL4_ENST00000276141.6_Silent_p.P225P			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	225					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCCATTCTGGAAAGAGGC	0.458000													20	25					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895299	42895299	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:42895299A>T	ENST00000399770.2	+	1	16	c.16A>T	c.(16-18)Atg>Ttg	p.M6L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	6					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TAAAAGGGAGATGAAGCCAGA	0.502000													22	36					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39705291	39705291	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:39705291T>C	ENST00000395670.3	-	31	4446	c.4027A>G	c.(4027-4029)Ata>Gta	p.I1343V	KIF21A_ENST00000361961.3_Missense_Mutation_p.I1329V|KIF21A_ENST00000541463.2_Missense_Mutation_p.I1289V|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Missense_Mutation_p.I1305V|KIF21A_ENST00000361418.5_Missense_Mutation_p.I1342V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1342					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTTCAGCTATGTGAATACAC	0.413000													26	101					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70549918	70549918	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:70549918G>C	ENST00000377844.4	-	2	1273	c.514C>G	c.(514-516)Cat>Gat	p.H172D	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	172					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCATTGAATGGCCGGTTGAT	0.383000													18	58					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913863	44913863	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:44913863G>A	ENST00000429094.2	-	19	2829	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	NELL2_ENST00000549027.1_Silent_p.D774D|NELL2_ENST00000452445.2_Silent_p.D775D|NELL2_ENST00000333837.4_Silent_p.D798D|NELL2_ENST00000395487.2_Silent_p.D774D|NELL2_ENST00000437801.2_Silent_p.D825D|NELL2_ENST00000551601.1_Silent_p.D727D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	775	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATTCATTTCGTCCAGGCAAG	0.493000													14	62					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30747674	30747674	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:30747674A>T	ENST00000262518.4	+	32	7268	c.6883A>T	c.(6883-6885)Atg>Ttg	p.M2295L	SRCAP_ENST00000344771.4_Missense_Mutation_p.M2137L|SRCAP_ENST00000395059.2_Missense_Mutation_p.M2233L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2295	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGATGAGGAGATGTCCCGGGC	0.572000													24	60					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30719028	30719028	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:30719028G>A	ENST00000262518.4	+	6	1013	c.628G>A	c.(628-630)Gag>Aag	p.E210K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E210K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E210K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	210					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCAATGTGGAGAAGGTAGA	0.522000													27	54					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47093899	47093899	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr18:47093899T>A	ENST00000261292.4	+	3	645	c.367T>A	c.(367-369)Tgg>Agg	p.W123R	LIPG_ENST00000427224.2_Missense_Mutation_p.W123R|LIPG_ENST00000577628.1_Missense_Mutation_p.W159R|LIPG_ENST00000580036.1_Missense_Mutation_p.W123R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	123					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGTGGTTGACTGGCTCCCCCT	0.542000													9	36					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101602387	101602387	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:101602387C>T	ENST00000375011.3	+	7	1316	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	439						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTGCATGTGCCTGAGGACAGG	0.582000													25	198					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090570	91090570	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:91090570G>A	ENST00000373094.1	+	1	912	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	23					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTCTGGCGCCCAGGAGAA	0.473000													42	32					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922198	24922198	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:24922198C>A	ENST00000329468.2	+	1	1658	c.1184C>A	c.(1183-1185)aCc>aAc	p.T395N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGCAGCATCACCCAGCCTGCC	0.527000													16	35					3.32936e-07	3.74844e-07	1	1	0
ACVR1C	130399	broad.mit.edu	37	2	158412844	158412844	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:158412844G>A	ENST00000243349.7	-	3	665	c.304_splice	c.e3-1	p.A102_splice	ACVR1C_ENST00000409680.3_Splice_Site_p.A52_splice|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	102					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTGGTGATGCTACAGTTTA	0.403000													24	73					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186026439	186026439	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:186026439G>C	ENST00000271588.4	+	46	7447	c.7218G>C	c.(7216-7218)ttG>ttC	p.L2406F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2406F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2406	Ig-like C2-type 22.				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						CAGTATCTTTGACTTGTGAAG	0.423000													18	85					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						20	35					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915441	119915441	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:119915441C>A	ENST00000331113.4	+	1	1720	c.755C>A	c.(754-756)cCt>cAt	p.P252H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	252					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCTGCAGCGCCTAGTCGTTAC	0.537000													28	49					4.43304e-23	6.28827e-23	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137726895	137726895	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:137726895C>A	ENST00000371817.3	+	65	5629	c.5215C>A	c.(5215-5217)Cac>Aac	p.H1739N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1739	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGCCTCTGCCCACCAGAACGT	0.652000													6	45					1.6384e-10	1.99835e-10	1	1	0
TAPT1	202018	broad.mit.edu	37	4	16188493	16188493	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:16188493C>T	ENST00000405303.2	-	6	840	c.757G>A	c.(757-759)Gca>Aca	p.A253T	TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.A142T|TAPT1_ENST00000304584.8_Intron	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	253						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATAAGAATTGCATGCAAAACT	0.274000													7	60					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606771	55606771	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55606771G>A	ENST00000378396.1	+	1	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTTCTTCTGTGAGTTATCCTC	0.413000													21	67					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70909342	70909342	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:70909342A>T	ENST00000322773.4	+	49	3227	c.3125A>T	c.(3124-3126)aAg>aTg	p.K1042M	COL19A1_ENST00000393344.1_Missense_Mutation_p.K664M	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1042					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCCAGCTCAAGCTGCCAGCA	0.458000													25	76					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159389730	159389730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:159389730G>A	ENST00000389757.3	+	2	159	c.34G>A	c.(34-36)Gag>Aag	p.E12K	PKP4_ENST00000389759.3_Missense_Mutation_p.E12K	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	12					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATTGGTGGAGGAGGGGCAACC	0.587000										HNSCC(62;0.18)			4	24					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907600	164907600	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:164907600C>T	ENST00000475390.1	-	2	1462	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	340						integral to membrane		p.R340L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTGGTGTTCGAGGCTGTTT	0.483000										HNSCC(40;0.11)			179	210					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090650	91090650	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:91090650G>T	ENST00000373094.1	+	1	992	c.147G>T	c.(145-147)ttG>ttT	p.L49F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L49F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	49	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTTAACTTGTCGCTGATTC	0.478000													34	34					1.22384e-17	1.63517e-17	1	1	0
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:55703522C>G	ENST00000301532.3	-	1	354	c.355G>C	c.(355-357)Gcc>Ccc	p.A119P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433000													18	65					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71868860	71868860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:71868860G>A	ENST00000373255.4	+	8	1114	c.850G>A	c.(850-852)Gac>Aac	p.D284N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	284	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GTGGGGCTCCGACAAATGTGA	0.567000													4	117					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774408	40774408	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:40774408T>A	ENST00000602553.1	-	5	1161	c.867A>T	c.(865-867)aaA>aaT	p.K289N	ZNF658_ENST00000377626.3_Missense_Mutation_p.K289N|ZNF658_ENST00000441795.1_Missense_Mutation_p.K287N			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCATGTGAACTTTATTGTATT	0.403000													69	265					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99422205	99422205	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:99422205G>C	ENST00000370188.3	-	2	690	c.330C>G	c.(328-330)tgC>tgG	p.C110W	LPPR5_ENST00000263177.4_Missense_Mutation_p.C110W	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		110						integral to membrane	hydrolase activity										GGTTTATATAGCAACAGTCTC	0.363000													4	49					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105185171	105185171	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr10:105185171C>T	ENST00000369797.3	+	20	3288	c.3194C>T	c.(3193-3195)gCc>gTc	p.A1065V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1065	S1 motif 9.				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)		TGTATCCATGCCTCCCACATT	0.537000													24	96					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249210	90249210	+	RNA	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:90249210G>A	ENST00000468879.1	+	0	347																											CAGTTATTTAGCCTGGTATCA	0.507000													78	196					0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95165608	95165608	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:95165608G>T	ENST00000262551.4	-	2	502	c.82C>A	c.(82-84)Cgc>Agc	p.R28S	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.R28S	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	28						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAGATAATGCGTGAGTCCTGC	0.378000													41	51					1.07121e-22	1.50624e-22	1	1	0
IFI16	3428	broad.mit.edu	37	1	158990176	158990176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:158990176A>T	ENST00000295809.7	+	6	1273	c.1018A>T	c.(1018-1020)Aga>Tga	p.R340*	IFI16_ENST00000368131.4_Nonsense_Mutation_p.R340*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.R340*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.R288*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.R284*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.R340*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.R340*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	340	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAGGATGATAGAGGAAAAAT	0.353000													13	71					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410152	105410152	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:105410152T>C	ENST00000333244.5	-	7	11755	c.11636A>G	c.(11635-11637)gAa>gGa	p.E3879G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3879						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTTCCTCGGGCAC	0.592000													90	264					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751874	81751874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:81751874C>G	ENST00000550584.2	-	15	2055	c.1760G>C	c.(1759-1761)aGa>aCa	p.R587T	PPFIA2_ENST00000550359.2_Missense_Mutation_p.R434T|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R513T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R569T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R587T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R488T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R154T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R569T|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	513										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGCTCATCTCTTCGCACACC	0.378000													4	17					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164123	60164123	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:60164123T>A	ENST00000300187.6	+	1	349	c.72T>A	c.(70-72)acT>acA	p.T24T	MS4A14_ENST00000531783.1_Silent_p.T24T|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Silent_p.T24T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	24						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGTATTGACTGCATTTCCCT	0.463000													15	47					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066805	20066805	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:20066805G>T	ENST00000396085.1	+	14	3852	c.3491G>T	c.(3490-3492)gGt>gTt	p.G1164V	NAV2_ENST00000533917.1_Missense_Mutation_p.G250V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1100V|NAV2_ENST00000311043.8_Missense_Mutation_p.G250V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1187V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.G1118V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1164V|NAV2_ENST00000527559.2_Missense_Mutation_p.G1116V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1187						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGTCTGCTGGTCGGAAGTCA	0.577000													14	62					6.31663e-08	7.23827e-08	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248636948	248636948	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248636948G>T	ENST00000359594.2	+	1	322	c.297G>T	c.(295-297)ccG>ccT	p.P99P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CCATTTCCCCGTCAGGCTGTG	0.547000													20	89					5.35356e-11	6.60477e-11	1	1	0
PDAP1	11333	broad.mit.edu	37	7	98995534	98995534	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:98995534G>A	ENST00000350498.3	-	5	718	c.438C>T	c.(436-438)atC>atT	p.I146I	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	146					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCTGTTTCCGGATGATGGCCA	0.592000													30	72					0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76928538	76928538	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:76928538C>T	ENST00000264888.5	-	1	103		c.e1+1			NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9						cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAACCCCTTACCTTGCACTCC	0.408000													46	147					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940560	21940560	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:21940560A>G	ENST00000542643.2	-	9	616	c.314T>C	c.(313-315)cTg>cCg	p.L105P	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.L136P|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.L105P|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.L105P|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.L169P|RAP1GAP_ENST00000374757.3_5'UTR	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	105					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGCAGCGTCCAGTGAGTAGTA	0.597000													10	36					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:21971036C>A	ENST00000579755.1	-	2	657	c.365G>T	c.(364-366)cGa>cTa	p.R122L	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	23					0.0438628	0.0445546	1	1	0
GAA	2548	broad.mit.edu	37	17	78086706	78086706	+	Silent	SNP	T	T	A	rs144090460	by1000genomes	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:78086706T>A	ENST00000302262.3	+	14	2139	c.1920T>A	c.(1918-1920)ccT>ccA	p.P640P	GAA_ENST00000390015.3_Silent_p.P640P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	640					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGGGGGTGCCTCTGGTCGGGG	0.642000													4	25					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559177	7559177	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:7559177G>A	ENST00000313599.3	-	5	1095	c.1038C>T	c.(1036-1038)acC>acT	p.T346T	CD163L1_ENST00000416109.2_Silent_p.T356T|CD163L1_ENST00000396630.1_Silent_p.T346T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	346	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAAAATTGACGGTTCCGGAAT	0.423000													24	66					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412914	49412914	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:49412914T>A	ENST00000418115.1	-	2	493	c.109A>T	c.(109-111)Aca>Tca	p.T37S	RHOA_ENST00000422781.1_Missense_Mutation_p.T37S|RHOA_ENST00000454011.2_Missense_Mutation_p.T37S	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	37					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TCAAACACTGTGGGCACATAC	0.438000													49	85					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220100382	220100382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:220100382G>C	ENST00000366926.3	-	2	867	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	236					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTGATATTCAGAGCTTCAGAC	0.373000													34	100					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr3:147131305G>T	ENST00000282928.4	+	3	2040	c.1311G>T	c.(1309-1311)gcG>gcT	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493000													10	117					0.000673444	0.000701777	1	1	0
DBH	1621	broad.mit.edu	37	9	136522343	136522343	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:136522343C>G	ENST00000393056.2	+	11	1726	c.1714C>G	c.(1714-1716)Cgc>Ggc	p.R572G	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	572					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCAGCCGTCCGCTTCCAGGT	0.632000													19	70					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636947	248636947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248636947C>G	ENST00000359594.2	+	1	321	c.296C>G	c.(295-297)cCg>cGg	p.P99R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P99L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACCATTTCCCCGTCAGGCTGT	0.547000													18	89					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50654065	50654065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:50654065G>A	ENST00000252677.3	+	1	282	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	94					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGGCCACCATGGTGAGGCTGG	0.587000													3	4					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630414	32630414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:32630414C>A	ENST00000242310.4	-	1	5253	c.5164G>T	c.(5164-5166)Ggg>Tgg	p.G1722W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1722					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCATACCCTTCAACATCC	0.502000													37	264					2.51541e-25	3.59983e-25	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139144920	139144920	+	Silent	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:139144920G>T	ENST00000395297.1	-	20	4307	c.4137C>A	c.(4135-4137)ggC>ggA	p.G1379G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGCGGCTCGGCCGATCAGGG	0.542000										HNSCC(54;0.14)			70	330					1.43161e-34	2.08588e-34	1	1	0
GIPC2	54810	broad.mit.edu	37	1	78546488	78546488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:78546488G>T	ENST00000370759.3	+	2	563	c.370G>T	c.(370-372)Gag>Tag	p.E124*	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	124	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTATAAATCTGAGGATTCACT	0.338000													8	75					1.12685e-05	1.23417e-05	1	1	0
ABCC9	10060	broad.mit.edu	37	12	21997758	21997758	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:21997758G>C	ENST00000261200.4	-	25	3187	c.3188C>G	c.(3187-3189)aCa>aGa	p.T1063R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1063R|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1027R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1063	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGGCAGCTGTGAGACCCAT	0.408000													30	88					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487018	248487018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:248487018G>T	ENST00000317965.2	-	1	881	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGAGGATTCAGCATGGGAGTG	0.438000													31	78					1.08312e-15	1.41774e-15	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42361025	42361025	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:42361025C>A	ENST00000298119.4	+	4	3147	c.1958C>A	c.(1957-1959)aCa>aAa	p.T653K	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	653						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)		AAGCCAAGTACAGAACCACAG	0.483000										HNSCC(30;0.082)			7	23					2.0095e-06	2.24673e-06	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249211400	249211400	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:249211400A>T	ENST00000539153.1	+	4	863	c.608A>T	c.(607-609)gAt>gTt	p.D203V	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.D206V|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	206										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCTCTCCCGATTCACATCAT	0.398000													40	134					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63978645	63978645	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr8:63978645G>T	ENST00000260116.4	-	3	401	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	124	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTTTGGGGTCCCAGTGT	0.343000													15	42					6.72482e-11	8.26486e-11	1	1	0
RP9	6100	broad.mit.edu	37	7	33134957	33134957	+	Silent	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:33134957G>A	ENST00000297157.3	-	6	572	c.555C>T	c.(553-555)caC>caT	p.H185H		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	185	Lys-rich.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			tctttttcttGTGTTTCTCTT	0.363000													18	91					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24567837	24567837	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr22:24567837G>T	ENST00000398319.2	+	34	6299	c.5914G>T	c.(5914-5916)Gcc>Tcc	p.A1972S	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.A397S|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1893S|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1972S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1972					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCACTAGCTGCCGCCACAAC	0.632000													19	47					6.94344e-10	8.25014e-10	1	1	0
NALCN	259232	broad.mit.edu	37	13	101844358	101844358	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:101844358G>C	ENST00000251127.6	-	14	1755	c.1674C>G	c.(1672-1674)gaC>gaG	p.D558E	NALCN_ENST00000376196.3_Missense_Mutation_p.D558E|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	558						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)					GGTCCATTACGTCCACCCATC	0.448000													11	47					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35287469	35287469	+	Splice_Site	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:35287469T>A	ENST00000316637.5	+	8	1387		c.e8+2		DEF6_ENST00000542066.1_Splice_Site	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)							cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TCAGACCAGGTAGGCCTGAGG	0.577000													14	49					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657715	20657715	+	RNA	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr15:20657715G>A	ENST00000428453.1	-	0	2243																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGCATGCTGAGCATCACCA	0.602000													6	18					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170588	36170588	+	Silent	SNP	C	C	T	rs147398180		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:36170588C>T	ENST00000335119.2	+	1	1200	c.1089C>T	c.(1087-1089)atC>atT	p.I363I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	363					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACCTGCCCATCGGGCTTGTCT	0.567000													40	148					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42971853	42971853	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr17:42971853T>C	ENST00000426333.2	-	2	334	c.37A>G	c.(37-39)Att>Gtt	p.I13V	EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I13V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I13V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	13						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCTGGTCCAATATAATTCCCA	0.368000													42	107					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844481	77844481	+	Silent	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr14:77844481T>A	ENST00000216471.4	+	1	1006	c.720T>A	c.(718-720)acT>acA	p.T240T	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	240										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						AACCAGAGACTCCAGAGGAGA	0.468000													30	60					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62894575	62894575	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:62894575A>T	ENST00000512091.1	+	21	3941	c.3194A>T	c.(3193-3195)tAt>tTt	p.Y1065F	LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1133F|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1065F|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1133F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1049					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCTTTAGCTATGAGGATAAC	0.388000													6	22					0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58058921	58058921	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:58058921A>G	ENST00000325134.5	-	3	751	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Y190H|ZNF550_ENST00000457177.1_Missense_Mutation_p.Y231H|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGCATTCATAGGGTTTCATT	0.488000													30	107					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133738189	133738189	+	Nonsense_Mutation	SNP	G	G	T	rs150134901	byFrequency	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:133738189G>T	ENST00000318560.5	+	4	970	c.589G>T	c.(589-591)Gag>Tag	p.E197*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	197	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CACCCTGGCCGAGTTGGTTCA	0.572000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								42	64					6.2361e-21	8.69275e-21	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73789342	73789342	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:73789342T>A	ENST00000334126.7	-	23	4647	c.4421A>T	c.(4420-4422)gAa>gTa	p.E1474V	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1474V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1474						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGGTGACTTCTGCTCTTTT	0.478000													43	102					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2052219	2052219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr16:2052219G>A	ENST00000563630.1	-	5	960	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	ZNF598_ENST00000431526.1_Missense_Mutation_p.R295C|ZNF598_ENST00000562103.1_Missense_Mutation_p.R240C			Q86UK7	ZN598_HUMAN	zinc finger protein 598	295						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCGTTCCGGCGCGAGTGCCGT	0.692000													4	49					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188487	57188487	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr7:57188487G>T	ENST00000331162.4	-	5	905	c.635C>A	c.(634-636)tCc>tAc	p.S212Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCATTTGTAGGACTTCTCCCT	0.333000													6	35					0.00198382	0.00205399	1	1	0
URB2	9816	broad.mit.edu	37	1	229783323	229783323	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:229783323G>T	ENST00000258243.2	+	7	4109	c.3973G>T	c.(3973-3975)Gtc>Ttc	p.V1325F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1325						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGTCTTAGATGTCCTGGCTGC	0.542000													24	82					1.64293e-13	2.08277e-13	1	1	0
CATSPER4	378807	broad.mit.edu	37	1	26524778	26524778	+	Splice_Site	DEL	T	T	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.678_splice	c.e6-1	p.V227_splice		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488													7	630	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210571	143210572	+	RNA	DEL	AC	AC	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:143210571_143210572delAC	ENST00000412204.2	-	0	498_499				RP11-782C8.1_ENST00000438000.1_lincRNA																							ATAAAAGTAAACACACACACAC	0.297													2	4	---	---	---	---					
KCNH1	3756	broad.mit.edu	37	1	211192448	211192448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr1:211192448delA	ENST00000367007.4	-	6	878	c.709delT	c.(709-711)atfs	p.Y237fs	KCNH1_ENST00000271751.4_Frame_Shift_Del_p.Y237fs	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	237					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAGACATTATAAGGGACCAAG	0.413													21	65	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6	---	---	---	---					
KDR	3791	broad.mit.edu	37	4	55976567	55976568	+	Splice_Site	DEL	CA	CA	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:55976567_55976568delCA	ENST00000263923.4	-	9	1551		c.e9+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAATGGACTCACCATACACAA	0.441			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			18	74	---	---	---	---					
CTSO	1519	broad.mit.edu	37	4	156849502	156849502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr4:156849502delC	ENST00000433477.3	-	7	986	c.917delG	c.(916-918)gafs	p.G306fs		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	306					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AACATTACTTCCCATTTTGAC	0.348													19	106	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													5	8	---	---	---	---					
CELP	1057	broad.mit.edu	37	9	135962523	135962524	+	RNA	INS	-	-	C	rs149568113	by1000genomes	TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr9:135962523_135962524insC	ENST00000411440.2	+	0	1030_1031					NR_001275.2																						TGACTCTGAGGCTCCCCCGTAC	0.663													3	4	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								9	122	---	---	---	---					
ABCC9	10060	broad.mit.edu	37	12	22035798	22035798	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr12:22035798delT	ENST00000261200.4	-	14	1920	c.1921delA	c.(1921-1923)ctfs	p.T641fs	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Frame_Shift_Del_p.T641fs|ABCC9_ENST00000345162.2_Intron	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	641					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTTTATAGTTTTTGGCTGC	0.408													7	320	---	---	---	---					
SLC10A2	6555	broad.mit.edu	37	13	103703645	103703645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:103703645delC	ENST00000245312.3	-	4	1319	c.723delG	c.(721-723)ggfs	p.G241fs		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	241					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCAGAAGAAACCCCAGGGAGT	0.428													10	83	---	---	---	---					
GRK1	6011	broad.mit.edu	37	13	114322049	114322049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr13:114322049delC	ENST00000335678.6	+	1	580	c.348delC	c.(346-348)gafs	p.D116fs		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	116	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AGTACCTGGACCCCCAGGCCA	0.607													16	41	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36351851	36351859	+	In_Frame_Del	DEL	GGACGTGGG	GGACGTGGG	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr19:36351851_36351859delGGACGTGGG	ENST00000360202.5	+	8	1167_1175	c.969_977delGGACGTGGG	c.(967-978)gtg>gt	p.VDVG323del	KIRREL2_ENST00000592409.1_In_Frame_Del_p.VDVG323del|KIRREL2_ENST00000586102.2_In_Frame_Del_p.VDVG303del|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_In_Frame_Del_p.VDVG273del|KIRREL2_ENST00000262625.7_In_Frame_Del_p.VDVG323del	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	323	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			CCGTGTCCGTGGACGTGGGGGAAGACGCT	0.660													9	44	---	---	---	---					
DSTN	11034	broad.mit.edu	37	20	17581415	17581434	+	Frame_Shift_Del	DEL	TCGCATTTTTTATGACATGA	TCGCATTTTTTATGACATGA	-	rs149992120		TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chr20:17581415_17581434delTCGCATTTTTTATGACATGA	ENST00000246069.6	+	2	382_401	c.36_55delTCGCATTTTTTATGACATGA	c.(34-57)tgaafs	p.CRIFYDMK12fs	DSTN_ENST00000543261.1_Start_Codon_Del|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	12	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						ATGAAGTATGTCGCATTTTTTATGACATGAAAGTTCGTAA	0.341													13	37	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41201809	41201809	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A6V3-01A-12D-A34J-08	TCGA-CN-A6V3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61b4c2a3-11a7-4bf9-a406-d922591cb57b	bcd5c039-36f7-46d6-9303-e9647d6099f2	g.chrX:41201809delT	ENST00000399959.2	+	5	1201	c.346delT	c.(346-348)ttfs	p.F116fs	DDX3X_ENST00000542215.1_Frame_Shift_Del_p.F160fs|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.F100fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	116					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGAAGTGGCTTTGGCAAATT	0.448										HNSCC(61;0.18)			27	41	---	---	---	---