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
ADAMTS9	56999	broad.mit.edu	37	3	64526833	64526833	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:64526833G>A	ENST00000498707.1	-	36	5801	c.5459C>T	c.(5458-5460)aCg>aTg	p.T1820M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T1792M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1820	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCAGCGGCCGTGTAATCCTT	0.468000													11	454					0	0	0.002450	0	0
RGS3	5998	broad.mit.edu	37	9	116241803	116241803	+	Missense_Mutation	SNP	C	C	G	rs138702068	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:116241803C>G	ENST00000374140.2	+	5	657	c.448C>G	c.(448-450)Cgg>Ggg	p.R150G	RGS3_ENST00000350696.5_Missense_Mutation_p.R150G|RGS3_ENST00000317613.6_Missense_Mutation_p.R38G	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	150	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.R150W(1)|p.R46W(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCCCAGGACCGGGTTCTGCT	0.587000													7	130					0	0	0.001984	0	0
PRPF40A	55660	broad.mit.edu	37	2	153526811	153526811	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:153526811T>A	ENST00000410080.1	-	15	2105	c.1564A>T	c.(1564-1566)Act>Tct	p.T522S		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	549					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCAGACCAAGTGGTAGAGTAT	0.368000													6	31					0	0	0.001168	0	0
MMP9	4318	broad.mit.edu	37	20	44640212	44640212	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:44640212G>A	ENST00000372330.3	+	6	842		c.e6-1			NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)						collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCTCGCCCCAGGACTCTACAC	0.567000													4	97					0	0	0.009096	0	0
OR4K17	390436	broad.mit.edu	37	14	20586099	20586099	+	Silent	SNP	C	C	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:20586099C>A	ENST00000315543.4	+	1	534	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGTAGTGACCTCATGGCTCT	0.453000													20	53					2.4624e-09	6.78885e-09	0.008871	1	0
ATRNL1	26033	broad.mit.edu	37	10	117059735	117059735	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr10:117059735C>T	ENST00000355044.3	+	16	2733	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	869	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGCAAATGGCCTTGTCTGTG	0.438000													7	32					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152772230	152772230	+	Silent	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:152772230G>T	ENST00000367255.5	-	26	3739	c.3138C>A	c.(3136-3138)acC>acA	p.T1046T	SYNE1_ENST00000367248.3_Silent_p.T1036T|SYNE1_ENST00000423061.1_Silent_p.T1053T|SYNE1_ENST00000413186.2_Silent_p.T1046T|SYNE1_ENST00000448038.1_Silent_p.T1053T|SYNE1_ENST00000341594.5_Silent_p.T1112T|SYNE1_ENST00000367253.4_Silent_p.T1046T|SYNE1_ENST00000265368.4_Silent_p.T1046T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1046					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)		GCATCAGCTTGGTCTCTCGAT	0.463000										HNSCC(10;0.0054)			6	119					8.12818e-05	0.000208506	0.001984	1	0
IGHV3-64	28414	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	A	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:107114004A>C	ENST00000454421.2	-	0	167																											GGCTGGACCAAGCCTTCCCCA	0.577000													4	129					0	0	0.000602	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:67564228C>T	ENST00000528089.1	-	0	912																											GAGGAGCCCGCTGGTGCTCCC	0.627000													5	47					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													4	81					0	0	0.009096	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:220315224C>T	ENST00000366922.1	+	20	2609	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	IARS2_ENST00000302637.5_Missense_Mutation_p.R832C|IARS2_ENST00000467924.1_3'UTR			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000													54	110					0	0	0.014410	0	0
PHC2	1912	broad.mit.edu	37	1	33832801	33832801	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:33832801T>G	ENST00000257118.5	-	6	945	c.892A>C	c.(892-894)Agc>Cgc	p.S298R	PHC2_ENST00000431992.1_Missense_Mutation_p.S269R|PHC2_ENST00000419414.2_Missense_Mutation_p.S298R|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	298					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCACACTGCTGTTGCCATCT	0.602000													13	144					0	0	0.002450	0	0
GRIA1	2890	broad.mit.edu	37	5	153054142	153054142	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:153054142C>G	ENST00000285900.5	+	6	1125	c.782C>G	c.(781-783)aCt>aGt	p.T261S	GRIA1_ENST00000521843.2_Missense_Mutation_p.T192S|GRIA1_ENST00000518142.1_Missense_Mutation_p.T181S|GRIA1_ENST00000340592.5_Missense_Mutation_p.T261S|GRIA1_ENST00000448073.4_Missense_Mutation_p.T271S|GRIA1_ENST00000518783.1_Missense_Mutation_p.T271S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	261					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACACAGACACTATTCCGGCC	0.532000													42	133					0	0	0.006999	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911728	35911728	+	Silent	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:35911728G>T	ENST00000490799.1	-	20	3215	c.2862C>A	c.(2860-2862)cgC>cgA	p.R954R	SLC26A8_ENST00000355574.2_Silent_p.R954R|SLC26A8_ENST00000394602.2_Silent_p.R849R	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	954	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCATAGGATGGCGTCTCCTCT	0.488000													26	136					1.33986e-20	3.83747e-20	0.004656	1	0
TRPV5	56302	broad.mit.edu	37	7	142627261	142627261	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:142627261T>C	ENST00000265310.1	-	3	589	c.241A>G	c.(241-243)Acg>Gcg	p.T81A	TRPV5_ENST00000442623.1_Missense_Mutation_p.T81A	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	81					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCAGCGCCGTCTCCCCCAGG	0.587000													5	94					0	0	0.000602	0	0
UPK2	7379	broad.mit.edu	37	11	118827131	118827131	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:118827131C>A	ENST00000264031.2	+	1	106	c.71C>A	c.(70-72)gCt>gAt	p.A24D	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	24					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCCCCAGGGGCTGCAGGTCTC	0.637000													12	53					0.00136819	0.00336348	0.013537	1	0
GRIK5	2901	broad.mit.edu	37	19	42566747	42566747	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:42566747G>A	ENST00000262895.3	-	4	400	c.401C>T	c.(400-402)gCg>gTg	p.A134V	GRIK5_ENST00000301218.4_Missense_Mutation_p.A134V|GRIK5_ENST00000593562.1_Missense_Mutation_p.A134V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	134						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTGACAGACGCGAAGCGAAG	0.602000													11	141					0	0	0.001855	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712490	140712490	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:140712490C>T	ENST00000517417.1	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R747W	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGGGTTCGGGCTTTCCT	0.627000													5	114					0	0	0.000602	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965628	7965628	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:7965628G>A	ENST00000539278.1	-	0	2799				LRRC8E_ENST00000306708.6_Missense_Mutation_p.V741M																							CTCGCCCCACGTGGGTGCCCT	0.642000													5	105					0	0	0.000602	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:23398084C>G	ENST00000379361.4	+	2	1588	c.728C>G	c.(727-729)tCc>tGc	p.S243C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	243					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCAGAAATCCAACAGCAAA	0.507000													15	138					0	0	0.007413	0	0
TRIM27	5987	broad.mit.edu	37	6	28871870	28871870	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:28871870G>C	ENST00000377199.3	-	8	1875	c.1519C>G	c.(1519-1521)Cat>Gat	p.H507D	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	507					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCATGGAATGACCATGATTC	0.527000			T	RET	papillary thyroid								7	97					0	0	0.003080	0	0
FCGBP	8857	broad.mit.edu	37	19	40408685	40408685	+	Missense_Mutation	SNP	T	T	A	rs61735900	byFrequency	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:40408685T>A	ENST00000221347.6	-	8	4161	c.4154A>T	c.(4153-4155)cAg>cTg	p.Q1385L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1385	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACACATCTGCTGGTAGTA	0.567000													5	150					0	0	0.010729	0	0
KCNG1	3755	broad.mit.edu	37	20	49620833	49620833	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:49620833C>T	ENST00000371571.4	-	3	1570	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	429						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGACCATGTCGCCATAGCCC	0.627000													16	93					0	0	0.004990	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321837	79321837	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:79321837C>G	ENST00000428286.1	-	8	5476	c.4276G>C	c.(4276-4278)Gag>Cag	p.E1426Q	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1785Q			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1785					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTCTTCTCCTTCTCCACT	0.443000													4	25					0	0	0.009096	0	0
VRTN	55237	broad.mit.edu	37	14	74823852	74823852	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:74823852C>T	ENST00000256362.4	+	2	607	c.366C>T	c.(364-366)ggC>ggT	p.G122G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	122					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACCTCCAGGGCATGATCGACT	0.647000													4	24					0	0	0.009096	0	0
TCP11	6954	broad.mit.edu	37	6	35108611	35108611	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:35108611G>T	ENST00000311875.5	-	2	493	c.76C>A	c.(76-78)Cct>Act	p.P26T	TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000512012.1_Missense_Mutation_p.P13T|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000444780.2_Missense_Mutation_p.P26T|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_5'UTR			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	13					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAGTCGCCAGGATATTTCGGG	0.622000													7	34					0.000157383	0.000400242	0.003080	1	0
ATP1A3	478	broad.mit.edu	37	19	42485697	42485697	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:42485697T>C	ENST00000545399.1	-	11	1586	c.1433A>G	c.(1432-1434)aAg>aGg	p.K478R	ATP1A3_ENST00000302102.5_Missense_Mutation_p.K465R|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K476R|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K435R	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	465					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCACTTTCTTGTTGCGTTC	0.557000													15	75					0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61828512	61828512	+	Silent	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr10:61828512G>T	ENST00000280772.1	-	37	12318	c.12127C>A	c.(12127-12129)Cgg>Agg	p.R4043R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4043					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R4043R(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCCACCCCGGGAAGTCTCG	0.488000													9	146					7.48243e-07	2.04381e-06	0.006214	1	0
TFEC	22797	broad.mit.edu	37	7	115624450	115624450	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:115624450G>T	ENST00000265440.7	-	2	226	c.46C>A	c.(46-48)Caa>Aaa	p.Q16K	TFEC_ENST00000320239.7_Missense_Mutation_p.Q16K|TFEC_ENST00000393485.1_Missense_Mutation_p.Q16K|TFEC_ENST00000484212.1_Missense_Mutation_p.Q106K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	16	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTGCAGGTTGTGACCATTTA	0.483000													62	63					1.48873e-21	4.30563e-21	0.014410	1	0
ATP11C	286410	broad.mit.edu	37	X	138856964	138856964	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:138856964T>C	ENST00000370557.1	-	19	3128	c.2101A>G	c.(2101-2103)Acc>Gcc	p.T701A	ATP11C_ENST00000327569.3_Missense_Mutation_p.T704A|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.T704A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T704A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T704A			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	704					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTTTTTGTGGTTAGTTCTAAG	0.418000													4	52					0	0	0.009096	0	0
PDE6C	5146	broad.mit.edu	37	10	95380467	95380467	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr10:95380467G>A	ENST00000371447.3	+	2	697	c.559G>A	c.(559-561)Ggc>Agc	p.G187S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	187	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GATCGTGGTGGGCAAGGAGGT	0.448000													9	102					0	0	0.004482	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			74	89					0	0	0.014410	0	0
KCNT2	343450	broad.mit.edu	37	1	196250003	196250003	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:196250003A>C	ENST00000367433.5	-	24	2926	c.2825T>G	c.(2824-2826)cTt>cGt	p.L942R	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892R|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.L966R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.L966R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328000													4	53					0	0	0.009096	0	0
AE000661.37	0	broad.mit.edu	37	14	22891797	22891797	+	RNA	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:22891797C>T	ENST00000514473.2	-	0	225				TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA																							AATAGGGGTCCCTGCCACCCT	0.502000													6	65					0	0	0.001168	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1																						ATCTGCGCACCCGGAGGTGGG	0.607000													3	6					0	0	0.004672	0	0
OR10S1	219873	broad.mit.edu	37	11	123847612	123847612	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:123847612G>A	ENST00000531945.1	-	1	876	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		TAGTACAGGAGCACCCCAGTG	0.602000													25	82					0	0	0.002780	0	0
MEIS3	56917	broad.mit.edu	37	19	47910798	47910798	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:47910798G>T	ENST00000331559.5	-	9	1274	c.833C>A	c.(832-834)cCa>cAa	p.P278Q	MEIS3_ENST00000558555.1_Intron|MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000559524.1_Missense_Mutation_p.P295Q|MEIS3_ENST00000561293.1_Missense_Mutation_p.P295Q	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GCAGACGTCTGGGAGAACCGG	0.682000													4	23					0.00024832	0.0006208	0.009096	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126128	31126128	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:31126128A>G	ENST00000304166.4	+	10	1089	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y267C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y267C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y246C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	267					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGATACTTCTACTGGTACACC	0.527000													28	60					0	0	0.006320	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842005	8842005	+	Silent	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:8842005G>T	ENST00000324060.2	+	1	690	c.615G>T	c.(613-615)ctG>ctT	p.L205L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGGGGTGCTGATCCTAATGC	0.567000											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	7	90					2.0095e-06	5.43855e-06	0.001984	1	0
CTAGE1	64693	broad.mit.edu	37	18	19996184	19996184	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:19996184G>C	ENST00000391403.2	-	1	1694	c.1591C>G	c.(1591-1593)Cca>Gca	p.P531A		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	531						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGATTCCCTGGGCCTCTGGAG	0.527000													6	89					0	0	0.001984	0	0
OR12D2	26529	broad.mit.edu	37	6	29365088	29365088	+	Silent	SNP	T	T	C	rs144790258	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:29365088T>C	ENST00000383555.2	+	1	673	c.612T>C	c.(610-612)atT>atC	p.I204I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGGGGACAATTGCCATGGGCC	0.443000													4	177					0	0	0.009096	0	0
TTC8	123016	broad.mit.edu	37	14	89338675	89338675	+	Splice_Site	SNP	G	G	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:89338675G>C	ENST00000338104.6	+	13	1326	c.1272_splice	c.e13-1	p.G425_splice	TTC8_ENST00000346301.4_Splice_Site_p.G369_splice|TTC8_ENST00000354441.6_Splice_Site_p.G144_splice|TTC8_ENST00000380656.2_Splice_Site_p.G409_splice|TTC8_ENST00000358622.5_Splice_Site_p.G211_splice|TTC8_ENST00000345383.5_Splice_Site_p.G399_splice|TTC8_ENST00000536576.1_Splice_Site_p.G170_splice			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	435					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTTTTGTAGGGAATAGGAGAT	0.488000													3	57					0	0	0.004672	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378867	31378867	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:31378867A>C	ENST00000297142.3	-	2	338	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	6					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GACTCATCAAACGGTAGTGTT	0.338000													9	260					0	0	0.006214	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210034	75210034	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:75210034G>A	ENST00000413679.2	+	17	2380	c.2077G>A	c.(2077-2079)Ggc>Agc	p.G693S	SEC14L1_ENST00000430767.4_Missense_Mutation_p.G693S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.G693S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.G693S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G659S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G693S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.G693S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G659S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	693					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGCCACAGCGGCTTCTCCCA	0.657000													21	104					0	0	0.002780	0	0
CMSS1	84319	broad.mit.edu	37	3	99891184	99891184	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:99891184G>C	ENST00000421999.2	+	8	750	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	CMSS1_ENST00000489081.1_Missense_Mutation_p.E184Q	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		AAAGTTGCTGGAGAAGCGTGT	0.443000													9	66					0	0	0.006214	0	0
LAMA1	284217	broad.mit.edu	37	18	6943282	6943282	+	Silent	SNP	A	A	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:6943282A>C	ENST00000389658.3	-	62	9057	c.8964T>G	c.(8962-8964)cgT>cgG	p.R2988R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2988	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGAGTGATACGGTGTTTGC	0.493000													19	122					0	0	0.007413	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													4	44					0	0	0.001168	0	0
ZNF385C	201181	broad.mit.edu	37	17	40180231	40180231	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:40180231C>T	ENST00000436535.3	-	6	1004	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	ZNF385C_ENST00000461831.1_5'UTR					zinc finger protein 385C											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				GGGAGCCCCTCGCTGACCTTC	0.706000													6	90					0	0	0.001168	0	0
PDGFB	5155	broad.mit.edu	37	22	39626222	39626222	+	Silent	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:39626222G>A	ENST00000331163.6	-	5	1255	c.468C>T	c.(466-468)atC>atT	p.I156I	PDGFB_ENST00000381551.4_Silent_p.I141I	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	156					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GCACAATCTCGATCTTTCTCA	0.582000			T	COL1A1	DFSP								7	88					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179616651	179616651	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:179616651T>C	ENST00000360870.5	-	46	10698	c.10476A>G	c.(10474-10476)atA>atG	p.I3492M	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3494							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTAGATGATATTCTACTTG	0.378000													65	119					0	0	0.014410	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844474	125844474	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:125844474C>T	ENST00000393434.2	-	15	2134	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	ALDH1L1_ENST00000452905.2_Silent_p.V494V|ALDH1L1_ENST00000472186.1_Silent_p.V595V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V605V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	595	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGGCTTGATCACCACTGTGT	0.582000													5	71					0	0	0.001984	0	0
STEAP3	55240	broad.mit.edu	37	2	120020788	120020788	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:120020788C>T	ENST00000354888.5	+	6	1845	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	STEAP3_ENST00000393106.2_Silent_p.A447A|STEAP3_ENST00000393108.2_Silent_p.A447A|STEAP3_ENST00000409811.1_3'UTR|STEAP3_ENST00000425223.2_Silent_p.A447A|STEAP3_ENST00000393110.2_Silent_p.A457A|STEAP3_ENST00000393107.2_Silent_p.A447A	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	447					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGGCCAAAGCCCTGTTTCTCC	0.647000													9	100					0	0	0.006214	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974137	46974137	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:46974137C>T	ENST00000313683.10	-	2	461	c.156G>A	c.(154-156)ccG>ccA	p.P52P	PNMAL1_ENST00000602246.1_Silent_p.P52P|PNMAL1_ENST00000438932.2_Silent_p.P52P	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	52										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcacgcggtacgggcccagtg	0.537000													9	41					0	0	0.004482	0	0
MYH8	4626	broad.mit.edu	37	17	10304723	10304723	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:10304723C>T	ENST00000403437.2	-	24	3071	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	993					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACAGTTTTGCAATGGTTTCA	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				11	112					0	0	0.010729	0	0
LPHN3	23284	broad.mit.edu	37	4	62845386	62845386	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr4:62845386C>T	ENST00000512091.1	+	17	3454	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	LPHN3_ENST00000506700.1_Missense_Mutation_p.R903W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	890					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						TTGCTTTTTCCGGGGGCTCCA	0.493000													64	180					0	0	0.014410	0	0
ZNF317	57693	broad.mit.edu	37	19	9271505	9271505	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:9271505G>T	ENST00000247956.6	+	7	1489	c.1184G>T	c.(1183-1185)tGc>tTc	p.C395F	ZNF317_ENST00000360385.3_Missense_Mutation_p.C363F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGTAAAGAATGCGGGAAATCC	0.517000													4	41					2.56e-06	6.86545e-06	0.009096	1	0
NLRP2	55655	broad.mit.edu	37	19	55489137	55489137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:55489137C>T	ENST00000543010.1	+	4	486	c.343C>T	c.(343-345)Cga>Tga	p.R115*	NLRP2_ENST00000263437.6_Nonsense_Mutation_p.R115*|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.R115*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.R115*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.R92*|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.R115*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	115					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.R115*(1)		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)		ACGGAAAGAACGACCACCTCT	0.552000													5	93					0	0	0.000602	0	0
GDNF	2668	broad.mit.edu	37	5	37816054	37816054	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:37816054C>T	ENST00000326524.2	-	3	534	c.335G>A	c.(334-336)aGg>aAg	p.R112K	GDNF_ENST00000381826.4_Missense_Mutation_p.R103K|GDNF_ENST00000515058.1_Missense_Mutation_p.R86K|GDNF_ENST00000427982.1_Missense_Mutation_p.R129K|GDNF_ENST00000344622.4_Missense_Mutation_p.R86K	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	112					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GTTTTTGCCCCTCTGGCCTCT	0.493000													15	105					0	0	0.002450	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853764	35853764	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:35853764G>C	ENST00000377988.2	+	13	2634	c.1346G>C	c.(1345-1347)tGc>tCc	p.C449S	TMEM8B_ENST00000377991.4_Missense_Mutation_p.C449S	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	449					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TACCAGCTATGCATCAACGAG	0.677000													12	99					0	0	0.001855	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857593	9857593	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr16:9857593C>G	ENST00000396573.2	-	14	4117	c.3808G>C	c.(3808-3810)Gac>Cac	p.D1270H	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1270H|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1270H|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1270					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTGCCCAGTCCTGCTGGTAG	0.517000													12	78					0	0	0.010729	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844486	125844486	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:125844486C>T	ENST00000393434.2	-	15	2122	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G	ALDH1L1_ENST00000452905.2_Silent_p.G490G|ALDH1L1_ENST00000472186.1_Silent_p.G591G|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.G601G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	591	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACTGTGTTCCCGGCAGCCA	0.572000													4	81					0	0	0.001168	0	0
NTMT1	28989	broad.mit.edu	37	9	132395060	132395060	+	Silent	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:132395060G>A	ENST00000372486.1	+	2	427	c.78G>A	c.(76-78)acG>acA	p.T26T	NTMT1_ENST00000459968.2_Silent_p.T26T|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372483.4_Silent_p.T26T|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Silent_p.T26T|NTMT1_ENST00000372481.3_Silent_p.T26T					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		TCCCACCCACGGTGGACGGCA	0.547000													13	89					0	0	0.013537	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954471	35954471	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:35954471T>C	ENST00000274278.3	-	7	1762	c.1405A>G	c.(1405-1407)Acg>Gcg	p.T469A		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	469						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGAGGTGCGTCGCTCCCCCA	0.612000													6	22					0	0	0.001984	0	0
B2M	567	broad.mit.edu	37	15	45003745	45003745	+	Translation_Start_Site	SNP	A	A	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr15:45003745A>T	ENST00000558401.1	+	1	71	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	B2M_ENST00000559916.1_Start_Codon_SNP_p.M1L|B2M_ENST00000544417.1_Start_Codon_SNP_p.M1L	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1L(3)|p.M1V(2)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCGGGCCGAGATGTCTCGCTC	0.612000													14	38					0	0	0.004990	0	0
ZNF85	7639	broad.mit.edu	37	19	21131712	21131712	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:21131712G>C	ENST00000601023.1	+	2	861	c.215G>C	c.(214-216)tGt>tCt	p.C72S	ZNF85_ENST00000345030.6_Missense_Mutation_p.C98S|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Missense_Mutation_p.C131S			Q03923	ZNF85_HUMAN	zinc finger protein 85	131	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.C131F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAGGAGGTTGTAATGGACTT	0.328000													4	57					0	0	0.009096	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277631	105277631	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:105277631C>A	ENST00000327674.4	-	4	1443	c.1108G>T	c.(1108-1110)Gtt>Ttt	p.V370F	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V370F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	370					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAAAGTTCAACTTCAGGGACA	0.458000													21	151					9.95505e-16	2.82379e-15	0.014323	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12883489	12883489	+	Silent	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:12883489G>T	ENST00000379672.5	+	19	2178	c.1878G>T	c.(1876-1878)ccG>ccT	p.P626P	ARHGAP44_ENST00000262444.9_Silent_p.P626P|ARHGAP44_ENST00000340825.3_Silent_p.P620P	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAGCTCAGCCGGGCGCCAGCC	0.647000													5	40					3.59834e-05	9.47776e-05	0.001168	1	0
BRINP3	339479	broad.mit.edu	37	1	190067878	190067878	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:190067878C>A	ENST00000367462.3	-	8	1802	c.1571G>T	c.(1570-1572)tGg>tTg	p.W524L	FAM5C_ENST00000534846.1_Missense_Mutation_p.W422L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		524						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGGATCAAACCAGCTATTGAG	0.448000													38	105					2.66277e-13	7.4811e-13	0.006999	1	0
SERPIND1	3053	broad.mit.edu	37	22	21134155	21134155	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:21134155C>T	ENST00000215727.5	+	2	838	c.555C>T	c.(553-555)gaC>gaT	p.D185D	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.D185D|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	185					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ATTTTAAAGACTTTGTTAATG	0.443000													6	121					0	0	0.001168	0	0
DPRX	503834	broad.mit.edu	37	19	54137861	54137861	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:54137861C>G	ENST00000376650.1	+	2	156	c.105C>G	c.(103-105)ttC>ttG	p.F35L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ACATCTTGTTCAATGAGAACC	0.443000													5	69					0	0	0.000602	0	0
ERAS	3266	broad.mit.edu	37	X	48687675	48687675	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:48687675G>A	ENST00000338270.1	+	1	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	48					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642000													4	24					0	0	0.009096	0	0
EP300	2033	broad.mit.edu	37	22	41573889	41573889	+	Silent	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:41573889C>G	ENST00000263253.7	+	31	7393	c.6174C>G	c.(6172-6174)ctC>ctG	p.L2058L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2058	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCGGACTCTCAGGTCTCCCA	0.552000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	191					0	0	0.009096	0	0
PLD1	5337	broad.mit.edu	37	3	171455813	171455813	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:171455813T>C	ENST00000356327.5	-	2	99	c.29A>G	c.(28-30)aAt>aGt	p.N10S	PLD1_ENST00000342215.6_Missense_Mutation_p.N10S|PLD1_ENST00000340989.4_Missense_Mutation_p.N10S|PLD1_ENST00000351298.4_Missense_Mutation_p.N10S	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	10					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGCAGAGGTATTTACCCGTGG	0.433000													17	29					0	0	0.007413	0	0
SMG6	23293	broad.mit.edu	37	17	2202561	2202561	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:2202561C>T	ENST00000544865.1	-	2	1903	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	SMG6_ENST00000263073.5_Missense_Mutation_p.A496T			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	496	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAGTAAGATGCCTGAGCCTGG	0.502000													53	207					0	0	0.014410	0	0
BCL9	607	broad.mit.edu	37	1	147091800	147091800	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:147091800C>T	ENST00000234739.3	+	8	2579	c.1839C>T	c.(1837-1839)agC>agT	p.S613S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	613	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCATTTTCAGCGGTCCTGGCC	0.552000			T	"""IGH@, IGL@"""	B-ALL								5	140					0	0	0.001168	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103405977	103405977	+	Silent	SNP	G	G	A	rs150855245	byFrequency	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:103405977G>A	ENST00000361246.2	-	34	5085	c.4797C>T	c.(4795-4797)gaC>gaT	p.D1599D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1599					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTGCATGCCGTCGCCTGGGC	0.612000													38	84					0	0	0.004289	0	0
MED20	9477	broad.mit.edu	37	6	41874865	41874865	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:41874865T>A	ENST00000265350.4	-	4	664	c.584A>T	c.(583-585)gAa>gTa	p.E195V	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	195					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGAAGAGTTCCATGTACTG	0.572000													37	50					0	0	0.004878	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994100	140994100	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:140994100C>A	ENST00000285879.4	+	4	1196	c.910C>A	c.(910-912)Cag>Aag	p.Q304K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	304							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCAGATTCCTGT	0.498000										HNSCC(15;0.026)			18	128					6.94344e-10	1.93237e-09	0.006122	1	0
CCDC27	148870	broad.mit.edu	37	1	3669271	3669271	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:3669271C>T	ENST00000294600.2	+	1	310	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	76										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CATGGCCAGCCGGGACGCCCG	0.622000													36	51					0	0	0.013726	0	0
HOXA2	3199	broad.mit.edu	37	7	27140362	27140362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:27140362G>A	ENST00000222718.5	-	2	1424	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	372						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTCAGATGCTGCAAGTCGATT	0.403000													12	153					0	0	0.010729	0	0
GNAS	2778	broad.mit.edu	37	20	57415675	57415675	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:57415675G>A	ENST00000313949.7	+	1	903	c.514G>A	c.(514-516)Gac>Aac	p.D172N	GNAS_ENST00000371098.2_Missense_Mutation_p.D172N|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.D172N|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGAAGCCCCGACGCCTCCCC	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	33					0	0	0.001168	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366564	40366564	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:40366564A>G	ENST00000406785.1	-	7	2603	c.2414T>C	c.(2413-2415)gTc>gCc	p.V805A	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V841A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V805A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V805A|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V833A|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V836A|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V805A|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V841A|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V805A|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V836A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	841					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCAAGTGCGACGAACACGAC	0.453000													4	40					0	0	0.009096	0	0
DSP	1832	broad.mit.edu	37	6	7581095	7581095	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:7581095C>T	ENST00000379802.3	+	23	5013	c.4672C>T	c.(4672-4674)Cgg>Tgg	p.R1558W	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1558	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGATATCACGCGGTTCCAGAA	0.517000													16	120					0	0	0.004007	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817552	77817552	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr4:77817552G>T	ENST00000334306.2	-	1	1450	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	484																	CCAAGGCAAAGGCTTCAGGGG	0.592000													6	152					3.59834e-05	9.47776e-05	0.001168	1	0
TTN	7273	broad.mit.edu	37	2	179640377	179640377	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:179640377T>G	ENST00000589042.1	-	28	6438	c.6214A>C	c.(6214-6216)Agt>Cgt	p.S2072R	TTN_ENST00000359218.5_Missense_Mutation_p.S2026R|TTN_ENST00000591111.1_Missense_Mutation_p.S2072R|TTN_ENST00000342992.6_Missense_Mutation_p.S2072R|TTN_ENST00000342175.6_Missense_Mutation_p.S2026R|TTN_ENST00000460472.2_Missense_Mutation_p.S2026R|TTN_ENST00000360870.5_Missense_Mutation_p.S2072R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1838							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTAGGACTTAGTTCAATC	0.458000													10	94					0	0	0.008291	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317757	145317757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:145317757G>A	ENST00000511217.1	+	1	318	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R89H			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	89							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCCTTCCGCAGGCCTGGC	0.617000													16	50					0	0	0.003163	0	0
OR6T1	219874	broad.mit.edu	37	11	123813903	123813903	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:123813903A>C	ENST00000321252.2	-	1	677	c.643T>G	c.(643-645)Tca>Gca	p.S215A		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	215					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)		TAGGAAACTGAGGTCAGAGCC	0.547000													5	73					0	0	0.000602	0	0
UMOD	7369	broad.mit.edu	37	16	20348693	20348693	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr16:20348693G>A	ENST00000396134.2	-	9	1882	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.R603W|UMOD_ENST00000302509.4_Missense_Mutation_p.R554W|UMOD_ENST00000396142.2_Missense_Mutation_p.R554W|UMOD_ENST00000424589.1_Missense_Mutation_p.R587W|UMOD_ENST00000570689.1_Missense_Mutation_p.R554W	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	554	ZP.	Cleavage.			cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCAGCAAACCGGAACATCTGG	0.517000													12	50					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13759027	13759027	+	Silent	SNP	G	G	A	rs150773884	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:13759027G>A	ENST00000265104.4	-	61	10451	c.10347C>T	c.(10345-10347)gcC>gcT	p.A3449A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3449	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCCAACTCGGCCTGGGCTT	0.552000									Kartagener syndrome				11	174					0	0	0.013537	0	0
ATP9B	374868	broad.mit.edu	37	18	77067094	77067094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:77067094G>A	ENST00000426216.2	+	15	1650	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	ATP9B_ENST00000307671.7_Missense_Mutation_p.V545M	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	545					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCATGAAGCCGTGAAAGCCAT	0.507000													14	50					0	0	0.002450	0	0
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:43837052C>T	ENST00000372781.3	+	2	1171	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312C	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418000													5	34					0	0	0.001168	0	0
TANC2	26115	broad.mit.edu	37	17	61278279	61278279	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:61278279C>T	ENST00000424789.2	+	5	512	c.508C>T	c.(508-510)Cca>Tca	p.P170S	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P170S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	170							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGTTACTAGTCCAACCTCTAC	0.443000													22	56					0	0	0.010504	0	0
APOLD1	81575	broad.mit.edu	37	12	12940476	12940476	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr12:12940476C>G	ENST00000356591.4	+	2	722	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Missense_Mutation_p.L244V	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	244					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CACCGGGGCTCTGGACGAACT	0.637000													4	89					0	0	0.009096	0	0
TNRC6B	23112	broad.mit.edu	37	22	40706900	40706900	+	Silent	SNP	T	T	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:40706900T>C	ENST00000454349.2	+	17	4549	c.4338T>C	c.(4336-4338)ggT>ggC	p.G1446G	TNRC6B_ENST00000335727.8_Silent_p.G1336G|TNRC6B_ENST00000301923.9_Silent_p.G642G|TNRC6B_ENST00000402203.1_Silent_p.G642G	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1446					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACACACTGGGTGGCCATACGG	0.507000													5	41					0	0	0.000602	0	0
UBE3B	89910	broad.mit.edu	37	12	109949049	109949049	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr12:109949049G>A	ENST00000342494.3	+	18	2492	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	UBE3B_ENST00000434735.2_Missense_Mutation_p.D633N|UBE3B_ENST00000280774.5_Missense_Mutation_p.D633N|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	633					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ACTCGACAGGGACAGAAAACG	0.478000													3	25					0	0	0.004672	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425673	143425673	+	Silent	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr8:143425673G>A	ENST00000524325.1	-	4	574	c.399C>T	c.(397-399)acC>acT	p.T133T	TSNARE1_ENST00000520166.1_Silent_p.T133T|TSNARE1_ENST00000307180.3_Silent_p.T133T|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	133					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCACCTCGGTCTCCTGCG	0.682000													5	36					0	0	0.000602	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	47					0	0	0.009096	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497040	95497040	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr4:95497040C>G	ENST00000317968.4	+	5	701	c.565C>G	c.(565-567)Cag>Gag	p.Q189E	PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.Q67E|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000538141.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	189					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TAGTGCTGACCAGTCTCCATC	0.562000													6	98					0	0	0.001168	0	0
LIN28A	79727	broad.mit.edu	37	1	26751818	26751818	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:26751818C>T	ENST00000326279.6	+	3	367	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	LIN28A_ENST00000254231.4_Missense_Mutation_p.R85W	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	85	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GGAAGGGTTCCGGAGCTTGAA	0.448000													6	81					0	0	0.001168	0	0
ZNF367	195828	broad.mit.edu	37	9	99150590	99150590	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:99150590G>A	ENST00000375256.4	-	5	1278	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	328					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGGCGCTCCCGCTGCTCCTGC	0.602000													9	58					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477062	110477062	+	Silent	SNP	C	C	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr8:110477062C>T	ENST00000378402.5	+	49	8105	c.8001C>T	c.(7999-8001)gcC>gcT	p.A2667A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2667					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)			ATGGAGGTGCCCTTCAGTTCC	0.443000										HNSCC(38;0.096)			11	80					0	0	0.008291	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	44					0	0	0.004672	0	0
RCC2	55920	broad.mit.edu	37	1	17747311	17747311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:17747311delC	ENST00000375436.4	-	7	945	c.758delG	c.(757-759)gcfs	p.G253fs	RCC2_ENST00000375433.3_Frame_Shift_Del_p.G253fs	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	253					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AATTGGCTGGCCGTTGTACAT	0.413													7	65	---	---	---	---					
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:43002200_43002201delAG	ENST00000428554.2	+	9	1188_1189	c.45_46delAG	c.(43-48)aaagfs	p.KE15fs	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356													10	72	---	---	---	---					
ADAM15	8751	broad.mit.edu	37	1	155030138	155030139	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:155030138_155030139insT	ENST00000356955.2	+	13	1450_1451	c.1349_1350insT	c.(1348-1350)tttfs	p.F450fs	ADAM15_ENST00000449910.2_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000447332.3_Frame_Shift_Ins_p.F434fs|ADAM15_ENST00000368412.3_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000368413.1_Frame_Shift_Ins_p.F156fs|ADAM15_ENST00000531455.1_Frame_Shift_Ins_p.F460fs|ADAM15_ENST00000359280.4_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000360674.4_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000368410.2_Frame_Shift_Ins_p.F156fs|ADAM15_ENST00000271836.6_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000355956.2_Frame_Shift_Ins_p.F450fs|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	450	Disintegrin.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCTGTGATTCTTTGACCTGCC	0.619													80	169	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)gcfs	p.S277fs	SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													8	183	---	---	---	---					
BRINP2	57795	broad.mit.edu	37	1	177249666	177249666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:177249666delT	ENST00000361539.4	+	8	1666	c.1354delT	c.(1354-1356)gcfs	p.C452fs	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		452						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCAATCTTCCTGCCAGGGCCC	0.607													17	39	---	---	---	---					
ZNF804A	91752	broad.mit.edu	37	2	185801896	185801896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:185801896delT	ENST00000302277.6	+	4	2367	c.1773delT	c.(1771-1773)cafs	p.H591fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	591						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACTGGTTCCATAAAAGTAGAA	0.308													15	84	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atg>a	p.ML6del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	6						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													8	103	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													4	5	---	---	---	---					
